Researchers from the Organoid group (Hubrecht Institute) and UMC Utrecht have developed a biobank with organoids derived from patients with head and neck cancer (HNC).
Dutch scientists have revealed new scientific insights into the features of fibrolamellar carcinoma (FLC), a rare type of childhood liver cancer.
Neurodegeneration, or the gradual loss of neuron function, is one of the key features of Alzheimer's disease. However, it doesn't affect all parts of the brain equally.
Johns Hopkins researchers, along with colleagues in Italy, have published a study that looks into the genetic mechanisms behind the development of schizophrenia.
A new artificial intelligence model could bring much-needed clarity to doctors delivering prognoses and deciding on treatments for patients with colorectal cancer.
Around 5,500 people with severe developmental disorders now know the genetic cause of their condition, thanks to a major nationwide study in the U.K..
An international coalition of biomedical researchers has determined a new way to measure the growth rate of precancerous clones of blood stem cells that one day could help doctors lower their patients' risk of blood cancer.
Testing for genetic mutations in urine can detect bladder cancer years before the disease shows clinical symptoms, new research has shown - reaching more than a decade for the most common cancer type.
A model organism used in laboratories for the past 100 years has evolved so extensively that it may no longer be fit for purpose, according to a new study on bacterial strain Escherichia coli K-12.
A new approach on the genetic tool CRISPR-Cas9 could reduce the risk of unwanted mutation, making it safer for use in humans, Dutch researchers have found.
In a new study, researchers from Kanazawa University show how some intestinal cancer cells lose their ability to spread as they divide and can be eliminated as the cancer grows.
Researchers have now found that artificial intelligence (AI) can improve the effectiveness of colonoscopy in the presence of Lynch syndrome.
Scientists managed to identify and kill breast cancer cells that evade standard treatments in a study in mice. The is a step towards the development of new treatments to prevent relapse in patients.
The need for breast cancer screening of transgender individuals has been a topic of uncertainty until recently, due to lack of reliable patient data, consensus by radiologists, published research, and recommended guidelines. A 2021 survey of Society of Breast Imaging (SBI) members revealed that ‘breast radiologists differ in their practice and knowledge regarding screening of transgender…
An international team highlights the importance of localising BRCA1 and BRCA2 gene mutations for the treatment of ovarian cancer.
Researchers have created a tool that maps how breast cancer grows in previously unseen detail, and highlights how the cells around the tumour may be the key to controlling the spread of disease.
A collaborative study has defined five new subgroups of the most common type of blood cancer, chronic lymphocytic leukaemia (CLL), and associated these with clinical outcomes.
White matter hyperintensities (WMH) on the brain seen on MRI represent a biomarker associated with a 50/50 risk of death within five years after a first incident acute ischemic stroke (AIS) or transient ischemic attack (TIA).
Research presented in a new preprint suggests that SARS-CoV-2 might have been artificially created in a laboratory. Experts from Würzburg have reviewed the paper – and remain unconvinced.
A simple 'liquid biopsy' blood test could help guide the treatment of children with the cancer rhabdomyosarcoma, a new study reports.
A vaccine design approach that could protect against new variants of SARS-CoV-2 but also potentially protects against other coronaviruses is one step closer to reality as a result of new research.
As more genomic alterations become targets for therapy, health institutions and hospitals are creating specialist Molecular Tumour Boards to support better decision-making for patient care. This evolving team, and its role, was highlighted in a presentation at the 34th European Congress of Pathology in Basel, Switzerland.
What if a test analysing cervical cells from a gynaecological swab could be used to detect four different female cancers at an early stage and also predict cancer risk over a healthy woman's lifetime? Researchers at the EUTOPS Institute in Innsbruck, Austria, are developing tests to do just that for breast, ovarian, cervical, and endometrial cancer detection.
Alveolar rhabdomyosarcoma is a rare pediatric tumor. For more than 40 years there has not been any new development regarding treatment. Research led by Prof. Dr. Anton Henssen at Charité University Berlin has now identified a new therapeutic option, using a drug that is currently under investigation for other types of cancer.
Researchers discovered that cancer cells mobilize a SOS response when they are desperate to resist anticancer drugs. The team also came up with an anti-SOS approach that blocked the mechanism in mice.
A surprising mechanism explains why high-grade gliomas, the deadliest form of brain cancer, returns: The tumours adapt to treatment by recruiting help from nearby healthy tissue.
Researchers from the UK and Sweden have found that individual prostate tumours contain a previously unknown range of genetic variation.
Researchers identify critical spots on the genome where gene editing could cause an unwanted response, and they provide recommendations for safer approaches.
Cardiomyopathy is not a uniform disease. Rather, individual genetic defects lead to heart failure in different ways, an international consortium reports.
A blood test could predict risk of developing leukaemia in the elderly population years in advance by identifying changes in blood cell production, according to new research.
A new approach makes use of natural DNA repair machinery and provides a foundation for novel gene therapy strategies with the potential to cure a large spectrum of genetic diseases.
A new AI platform can analyze genomic data extremely quickly, picking out key patterns to classify different types of colorectal tumors and improve the drug discovery process.
The search for rare mutations in bacterial genome could lead to better diagnostics and treatments – reducing morbidity caused by the deadly disease.
Computational approaches are being applied on enormous amounts of data from sequencing technologies to develop tools to help clinicians manage cancer more effectively.
Scientists use miniature brain models to understand how a mutated gene affects brain development.
Liquid biopsy performed on serum samples taken from breast cancer patients can provide increasingly accurate information on progression and enable earlier detection of recurrence.
The diagnosis is rare, but devastating – children with congenital muscle disorders often never learn to walk. Now, researchers from Basel present a possible therapeutic approach for the first time.
Researchers find that drug-resistant bacteria can be distinguished from non-resistant bacteria based on structural changes evident in electron microscope images with high accuracy using deep learning.
Liquid profiling is offering clear benefits in terms of cancer diagnostics and targeted therapy, but challenges remain in bringing it into the clinic.
An ECRC research team has introduced CRISPR-Cas9 into human muscle stem cells for the first time using mRNA, thus discovering a method suitable for therapeutic applications.
An international team of scientists have shown that small and large bacterial populations follow qualitatively different evolutionary paths to develop antibiotic resistance.
Pre-transplant chemotherapy facilitates the replacement of the brain's innate immune cells, by other immune cells derived from the transplanted stem cells.
Annual MRI screenings starting at ages 30-35 may reduce breast-cancer mortality by more than 50% among women who carry certain genetic changes in three genes, according to a new modeling analysis.
With micro-organisms and viruses constantly developing, mutating, and evolving, diagnostics must adapt just as rapidly. Advanced laboratory technology and instruments are undeniably a prerequisite for best practice in life sciences and biotechnology.
Faulty versions of the BRCA1 and BRCA2 genes are well known to increase the risk of breast and ovarian cancer. Now, they have been linked to several other cancers, including those that affect men.
Researchers from Charité – Universitätsmedizin Berlin and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) present new findings on the immune response against SARS-CoV-2.
Under the roof of integrated diagnostics, radiology, laboratory medicine and pathology are forming a powerful alliance. Hedvig Hricak, MD, PhD, explains the potential for cancer patients and details the role of radiologists within the construct.
A mutation in the gene that causes fibrodysplasia ossificans progressiva (FOP) doesn’t just cause extra bone growth but is tied to a problem in generating new muscle tissue after injury.
In both the mice and organoids, cytokines suppressed tumor growth after treatment, and defense cells migrated to the brain region affected by the tumor, alerting the immune system to its existence.
Researchers have developed a diagnostic for SARS-CoV-2 that is capable of differentiating between COVID-19 and the garden-variety bug with fast turnaround.
The Omicron variant of SARS-CoV-2 may be significantly better at evading vaccine-induced antibodies – but preliminary evidence suggests it is less likely to cause severe illness in the lungs.
Safety trials are underway for a Cambridge-led vaccine that could be used as a booster targeting Covid-19 virus variants and relatives that threaten future coronavirus pandemics.
In multiple myeloma, a cancer of the bone marrow, relapse almost always occurs after treatment. Initially, most patients respond well to therapy. However, as the disease progresses, resistant cancer cells spread in the bone marrow, with fatal consequences for the patients. Scientists at the German Cancer Research Center (DKFZ), Heidelberg University Hospital (UKHD) and the National Center for…
An innovative collaboration has been formed in the UK between academic researchers and industry to develop a rapid integrated liquid biopsy platform for early detection of recurrent breast cancer. Breast cancer specialists Professor Charles Coombes, who is Professor of Medical Oncology at Imperial College London (ICL), and Professor Jacqui Shaw, Head of the Department of Genetics and Genome…
Together with Imperial College London (‘Imperial’), molecular diagnostics company DNAe has been awarded a UK Knowledge Transfer Partnership (KTP) by Innovate UK to support development of its next generation sequencing (NGS)-based diagnostic platform for use in cancer monitoring. The KTP program connects innovative businesses with academic experts who can help them deliver their ideas. This…
The skin bacterium Staphylococcus aureus often develops antibiotic resistance. It can then cause infections that are difficult to treat. Researchers at the University of Bonn have uncovered an ingenious way in which a certain strain of Staphylococcus aureus protects itself against the important antibiotic vancomycin. The results have now been published in the journal Microbiology Spectrum.
Using cutting-edge genomic sequencing techniques, researchers at the University of Oxford have identified almost all the genomic variation that gives people resistance to 13 of the most common tuberculosis (TB) drug treatments. The Comprehensive Resistance Prediction for Tuberculosis International Consortium (CRyPTIC) research project has collected the largest ever global dataset of clinical M.…
Scientists at Lausanne University Hospital (CHUV) and École polytechnique fédérale de Lausanne (EPFL) have discovered a highly potent monoclonal antibody that targets the SARS-CoV-2 spike protein and is effective at neutralizing all variants of concern identified to date, including the delta variant. Their findings are published in the journal Cell Reports.
A new rapid molecular diagnostic test from Cepheid has received the CE mark for distribution in the European market. The test, called Xpert Xpress CoV-2/Flu/RSV plus, is designed for qualitative detection of the viruses causing Covid-19, Flu A, Flu B, and respiratory syncytial virus (RSV) infections from a single patient sample. The new plus version of the test provides a third gene target for…
The Covid-19 crisis that gripped England between September 2020 and June 2021 can be thought of as a series of overlapping epidemics, rather than a single event, say researchers at the Wellcome Sanger Institute, EMBL's European Bioinformatics Institute (EMBL-EBI) and the German Cancer Research Center.
Researchers at the Centre for Genomic Regulation (CRG) and Pulmobiotics S.L have created the first ‘living medicine’ to treat antibiotic-resistant bacteria growing on the surfaces of medical implants. The researchers created the treatment by removing a common bacteria’s ability to cause disease and repurposing it to attack harmful microbes instead.
A computer program trained to see patterns among thousands of breast ultrasound images can aid physicians in accurately diagnosing breast cancer, a new study shows. When tested separately on 44,755 already completed ultrasound exams, the artificial intelligence (AI) tool improved radiologists’ ability to correctly identify the disease by 37 percent and reduced the number of tissue samples, or…
Researchers have found a way to defeat the multi-resistant bacterium Mycobacterium abscessus, a relative of the causes of tuberculosis and leprosy.
Researchers at the University of Helsinki could show for the first time that normal human fibroblast cells can be converted to specific cancer cells using only factors that are commonly detected in actual human patients. Previous studies have achieved this only by using powerful viral factors that are not common in human cancers. Since many human cancer types still lack specific diagnostic…
A solid diagnosis has always been the first step on any patient’s journey to health. However, diagnostic categories are necessarily oversimplifications. In the last decades, medical professionals and scientists have begun to uncover the true variability in patients’ physiological and biochemical make-up that is the principal cause for individual variations in the way diseases present…
To avoid adverse reactions, personalised laboratory medicine can help to predict a patient’s drug response. Investigations based on DNA and other omics technologies – e.g. genomics, transcriptomics, proteomics, metabolomics – along with microarray technologies, is making a particularly valuable contribution to cancer care, in which personalised approaches are becoming possible through…
A new study from the University of Helsinki shows that cells that are freshly isolated from lung cancers can be used to create robust drug response data. This approach can identify actionable or non-responsive treatments, illustrated by a case study in which the assay was used to guide the compassionate treatment of a patient.
A newly targeted therapy could help millions of lung cancer patients worldwide keep their cancers from spreading, says an expert at Cleveland Clinic, on the occasion of World Lung Cancer Day. Dr. Khaled Hassan, of the Hematology and Medical Oncology Department at Cleveland Clinic, explains the concept of KRAS targeted therapy – and why the approach should not be mistaken for a cancer cure.
The Biomedical Genomics laboratory at the Institute for Research in Biomedicine (IRB) Barcelona has developed a computational tool that identifies cancer driver mutations for each tumour type. This and other developments produced by the same lab seek to accelerate cancer research and provide tools to help oncologists choose the best treatment for each patient. The study has been published in the…
Antibiotic-resistant pathogens have become one of the greatest threats to public health. The basic mechanisms of resistance evolution have been well studied experimentally and are an important research field at Kiel University. An important factor in this context, but one that has received little attention so far, is the population size of the respective pathogen. Over the course of an infection…
Efforts to understand cardiac disease progression and develop therapeutic tissues that can repair the human heart are just a few areas of focus for the Feinberg research group at Carnegie Mellon University. The group's latest dynamic model, created in partnership with collaborators in the Netherlands, mimics physiologic loads on engineering heart muscle tissues, yielding an unprecedented view of…
Why do alterations of certain genes cause cancer only in specific organs of the human body? Scientists at the German Cancer Consortium (DKTK), the Technical University of Munich (TUM), and the University Medical Center Göttingen have now demonstrated that cells originating from different organs are differentially susceptible to activating mutations in cancer drivers: The same mutation in…
Pancreatic cancer is one of the deadliest cancers in the world, and one of the most difficult to treat. In 2020, an estimated 495,000 individuals worldwide were diagnosed with pancreatic cancer and an estimated 466,000 died, according to statistics from the World Health Organization’s International Agency for Research on Cancer. Most patients with advanced disease die within a year of…
In-vitro-diagnostics company bioMérieux has launched Episeq SARS-CoV-2, a genomic software solution to support microbiology labs in identification and reporting from raw sequencing data related to SARS-CoV-2 variants. Viral mutation is a naturally occurring phenomenon leading to the emergence of variants that can have different characteristics. Today, a number of SARS-CoV-2 variants are…
A new project led by University of California San Diego Biological Sciences graduate student Joshua Borin has provided evidence that phages that undergo special evolutionary training increase their capacity to subdue bacteria.
Researchers from Case Western Reserve University have identified a potential new approach to better controlling epilepsy. Lin Mei, professor and chair of the Department of Neurosciences at Case Western Reserve School of Medicine, who led the new study in mouse models, said the team found a new chemical reaction that could help control epileptic seizures.
A gene called GAS2 plays a key role in normal hearing, and its absence causes severe hearing loss, according to a study led by researchers in the Perelman School of Medicine at the University of Pennsylvania. The researchers, whose findings are published online in Developmental Cell, discovered that the protein encoded by GAS2 is crucial for maintaining the structural stiffness of support cells…
A new low-cost method targeting genetic mutations often missed by existing diagnostic approaches has been developed. Researchers at Virginia Commonwealth University (VCU) in the United States noted that most rearrangement mutations implicated in cancer and neurological diseases fall between what can be detected by DNA sequence reads and optical microscopy methods. The new technique combines…
The Foundation Fighting Blindness has granted 600,000 US$ to help Hendrik Scholl as principal investigator define a novel way of reversing blindness. Hendrik Scholl is Director of the Institute of Molecular and Clinical Ophthalmology Basel (IOB), Professor and Chairman of the Department of Ophthalmology, University of Basel, and Head of the University Hospital’s Eye Clinic in Basel, Switzerland.
Researchers from Cleveland Clinic and Case Western Reserve University collaborate on genetic study of SARS-CoV-2 mutations. Results show how the different COVID-19 clades evolved.
Research has identified critical factors that enable dangerous bacteria to spread disease by surviving on surfaces in hospitals and kitchens. The study into the mechanisms which enable the opportunistic human pathogen Pseudomonas aeruginosa to survive on surfaces, could lead to new ways of targeting harmful bacteria. To survive outside their host, pathogenic bacteria must withstand various…
Genetically enhancing a patient's immune cells by adding therapeutic genes to them outside the body is regarded as a promising new treatment approach in oncology. However, the production of these therapeutic cells using viruses is not only expensive but time-consuming. Researchers at the German Cancer Research Center (DKFZ) have developed an innovative non-viral vector that can efficiently…
SARS-CoV-2 is the virus responsible for the Covid-19 pandemic. We know that mutations in the genome of SARS-CoV-2 have occurred and spread, but what effect do those mutations have? Current methods for studying mutations in the SARS-CoV-2 genome are very complicated and time-consuming because coronaviruses have large genomes, but now a team from Osaka University and Hokkaido University have…
New research has uncovered a surprising role for so-called “jumping” genes that are a source of genetic mutations responsible for a number of human diseases. In the new study from Children’s Medical Center Research Institute at UT Southwestern (CRI), scientists made the unexpected discovery that these DNA sequences, also known as transposons, can protect against certain blood cancers. These…
DNA errors in the cell’s energy ‘factories’ increases the chances of survival for people with bowel cancer, also known as colorectal cancer, according to a new study. Studying how DNA errors (mutations) can drive cancer development, as well as help it adapt and evolve, has been a key focus of cancer research. But much of that focus has been on DNA found in the cell’s nucleus. Experts say…
Stefan Pfister, a director of the Hopp Children’s Cancer Center Heidelberg (KiTZ), a department head at the German Cancer Research Center (DKFZ) and a pediatric oncologist at University Hospital Heidelberg (UKHD), has received the Léopold Griffuel Award from Fondation ARC, the French cancer research foundation. The prize, worth EUR 150,000 in Basic Research category, is one of the highest…
Clinicians using a new viral screening test can not only diagnose Covid-19 in a matter of minutes with a portable, pocket-sized machine, but can also simultaneously test for other viruses—like influenza—that might be mistaken for the coronavirus. At the same time, they can sequence the virus, providing valuable information on the spread of Covid-19 mutations and variants. The new test, dubbed…
Intrahepatic cholangiocarcinoma (ICC) develops within the liver. With one to two cases per 100,000 inhabitants in Germany, ICC is one of the rare diseases overall, but it is the second most common liver cancer. The aggressive bile duct tumour remains clinically inconspicuous for a long time, so that it is often only detected late. Because the tumour also only responds to chemotherapy to a limited…
Tumor vaccines can help the body fight cancer. Mutations in the tumor genome often lead to protein changes that are typical of cancer. A vaccine can alert the patients' immune system to these mutated proteins. For the first time, physicians and cancer researchers from Heidelberg and Mannheim have now carried out a clinical trial to test a mutation-specific vaccine against malignant brain tumors.…
Healthy and cancer cells can look similar under a microscope. One way of differentiating them is by examining the level of acidity, or pH level, inside the cells. Tapping on this distinguishing characteristic, a research team from the National University of Singapore (NUS) has developed a technique that uses artificial intelligence (AI) to determine whether a single cell is healthy or cancerous…
Do BMMFs, the novel infectious agents found in dairy products and bovine sera, play a role in the development of colorectal cancer? Scientists led by Harald zur Hausen detected the pathogens in colorectal cancer patients in close proximity to tumors. The researchers show that the BMMFs trigger local chronic inflammation, which can cause mutations via activated oxygen molecules and thus promote…
A global group of researchers is calling for better integration of viral genetics, bioinformatics, and public health to enable better pandemic response now and better pandemic preparedness in the future. In a comment piece in the journal Nature, an international collaboration of specialists in viral and genetic analysis, led by Swiss scientists Dr. Emma Hodcroft at the University of Bern and…
Researchers at the University of Maryland School of Medicine (UMSOM) and their colleagues published a new analysis from genetic sequencing data of more than 53,000 individuals, primarily from minority populations. The early analysis, part of a large-scale program funded by the National Heart, Lung, and Blood Institute, examines one of the largest and most diverse data sets of high-quality whole…
Scientific and public health experts have been raising the alarm for decades, imploring public officials to prepare for the inevitability of a viral pandemic. Infectious epidemics seemingly as benign as "the flu" and as deadly as the Ebola virus provided ample warning, yet government officials seemed caught off guard and ill prepared for dealing with Covid-19.
In many ways, our brain and our digestive tract are deeply connected. Feeling nervous may lead to physical pain in the stomach, while hunger signals from the gut make us feel irritable. Recent studies have even suggested that the bacteria living in our gut can influence some neurological diseases. Modeling these complex interactions in animals such as mice is difficult to do, because their…
The emergence of SARS-CoV-2 virus variants that are adding twists in the battle against COVID-19 highlight the need for better genomic monitoring of the virus, says Katia Koelle, associate professor of biology at Emory University.
Researchers at Vanderbilt University Medical Center (VUMC) and the University of Texas Medical Branch (UTMB) at Galveston have discovered what may be the Achilles' heel of the coronavirus, a finding that may help close the door on COVID-19 and possibly head off future pandemics.
As the first coronavirus vaccines started to be rolled out at the end of a tumultuous 2020, UK officials unexpectedly endorsed stretching the gap between the first and second vaccine dose by up to three months – an approach also considered by other countries.
When cancer is confined to one spot in the body, doctors can often treat it with surgery or other therapies. Much of the mortality associated with cancer, however, is due to its tendency to metastasize, sending out seeds of itself that may take root throughout the body. The exact moment of metastasis is fleeting, lost in the millions of divisions that take place in a tumor. “These events are…
MRI is the most sensitive method to detect breast cancer. However, the current breast cancer guidelines for Europe, Germany and Austria, still only recommend it for certain indications: For early detection in high risk patients, for differentiation between scarring and recurrences after breast-conserving treatment and to detect cancers of unknown primary site. This is the theory. However, in…
Scientists at The Ohio State University have discovered a new variant of SARS-Cov-2, the virus that causes Covid-19. The new variant carries a mutation identical to the U.K. strain, but it likely arose in a virus strain already present in the United States. The College of Medicine researchers also report the evolution of another U.S. strain that acquired three other gene mutations not previously…
Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder. How exactly this happens remeained a mystery for long. Now, a new study illuminates new details. The research suggests that MLL4 controls the production of neurons that secrete growth hormone-releasing hormone (GHRH) in a part of the brain called the hypothalamus. Mice without…
Researchers at Massachusetts General Hospital (MGH) in Boston have developed a novel blood test using an enhanced form of liquid biopsy capable of detecting the most common types of genetic mutations that occur in glioma brain tumors. The test is easy to use, inexpensive, produces results rapidly, and can be performed in most clinical laboratories. The researchers believe that the blood test has…
Colon cancer stem cells have one weak spot: the enzyme Mll1. An MDC team led by Walter Birchmeier has now shown in Nature Communications that blocking this protein prevents the development of new tumors in the body. Since colonoscopies were introduced in Germany for early cancer detection, the number of diagnoses of advanced cancer every year has decreased, as precancerous lesions can now be…
Cold Spring Harbor Laboratory (CSHL) scientists developed the world’s first mobile genome sequence analyzer, a new iPhone app called iGenomics. By pairing an iPhone with a handheld DNA sequencer, users can create a mobile genetics laboratory, reminiscent of the “tricorder” featured in Star Trek.
In recent years, targeted therapies have cemented their place as some of the most important tools in cancer treatment. These medicines are designed to block specific signals that tumor cells use to grow and spread, while at the same time leaving normal cells unharmed. Targeted therapies can significantly extend patients’ lives, but the benefits are often only temporary. Over time, many cancers…
None of the mutations currently documented in the SARS-CoV-2 virus appear to increase its transmissibility in humans, researchers conclude after the analysis of virus genomes from over 46,000 people with COVID-19 from 99 countries.
A software tool to predict the most effective therapy for non-small cell lung cancer (NSCLC) developed by applying deep learning artificial intelligence (AI) to positron emission tomography/computed tomography (PET/CT) images has been developed by researchers at H. Lee Moffitt Cancer Center and Research Institute in Tampa, Florida. The tool is designed to provide a noninvasive, accurate method to…
For a slow-growing microbe that multiplies infrequently, Mycobacterium tuberculosis, the pathogen that causes tuberculosis (TB) has long puzzled researchers as to how it develops resistance to antibiotics so quickly, in a matter of weeks to months.
New insights into the mechanisms behind how cancer-causing agents in the environment activate genetic recombination in DNA could help to explain some of the effects of exposure as well as predicting which individuals may be more susceptible to developing the disease, a new UK study has suggested.
Launched in 2011, the Pan-Cancer Project, involved more than 1,300 scientists and clinicians in 37 countries, and analysed more than 2,600 genomes of 38 tumour types. Discovery: The first indications of cancer development can be found in genes at a very early stage, which triggers new opportunities for treatment.
This year, the MEDICA LABMED FORUM will offer a high-profile programme with top speakers which is free for registered online visitors.
Leukemia frequently originates from the so-called leukemic stem cell, which resides in a tumor promoting and protecting niche within the bone marrow. Scientists from the Max Planck Institute of Biochemistry in Martinsried, Germany, have found a new way to make these cells vulnerable by specifically dislodging these cells from their niches.
The field of AI-enhanced imaging provides radiologists with an unprecedented opportunity to shape patient care, leading Austrian radiologist Katja Pinker-Domenig explained at ECR 2020.
Researchers at the University of Helsinki and the Dana-Farber Cancer Institute have identified the mechanism behind bone marrow failure developing in children that suffer from Fanconi anaemia. The findings will help to develop new therapies for the disorder.
An up-and-coming gene therapy for blood disorders. A new class of medications for cystic fibrosis. Increased access to telemedicine. These are some of the innovations that will enhance healing and change healthcare in the coming year, according to a distinguished panel of clinicians and researchers from Cleveland Clinic. In conjunction with the 2020 Medical Innovation Summit, Cleveland Clinic…
Scientists from Texas A&M University, Hewlett Packard Labs and Stanford University have developed a new nanodevice that acts almost identically to a brain cell.
More than 32,000 people from over 160 countries registered for The Alzheimer’s Association International Conference (AAIC 2020) in July. This largest and most influential international conference on dementia science had to be held virtually this year, when important highlights were aired. The ability to identify individuals at high risk of developing Alzheimer’s Disease (AD), or at early…
More than 73,000 users collaborate on new online platform set up by the European Open Science Cloud Initiative, where scientists share COVID-19 data and accelerate our understanding of the virus to help develop treatments and vaccines quicker.
“Spinocerebellar ataxias” are diseases of the nervous system associated with a loss of motor coordination. A European research alliance headed by the German Center for Neurodegenerative Diseases (DZNE) and the University of Bonn has now registered whether and how symptoms of ataxia developed over the years in around 250 persons at risk, who initially did not show symptoms. This is the first…
Neuroradiologist Dr Sofie Van Cauter described the challenges to brain tumour image segmentation during the European Society of Medical Imaging Informatics (EuSoMII) annual meeting in Valencia. She also outlined how, when clinically validated, AI could help tackle such problems. The WHO classification of brain tumours has come a long way since first introduced in 1979. The 2016 classification was…
Researchers at the University of Delaware, using supercomputing resources and collaborating with scientists at Indiana University, have gained new understanding of the virus that causes hepatitis B and the "spiky ball" that encloses the virus's genetic blueprint.
Better outcomes, more favourable prognoses – oncologists and their lung cancer patients didn’t dare to dream about it. Finally, there might be hope. The so-called checkpoint inhibitors (immunotherapy drug) have been used successfully, albeit not for every patient. They are a double-edged sword, with risks as well as opportunities, as explained by Professor Cornelia Schäfer-Prokop.
A gene has been discovered that can naturally suppress the signs of Alzheimer’s Disease in human brain cells, in research led by Queen Mary University of London. The scientists have also developed a new rapid drug-screening system for treatments that could potentially delay or prevent the disease. The main challenge in testing Alzheimer’s drugs in clinical trials is that participants need to…
Johns Hopkins scientists report the successful use of nanoparticles to deliver gene therapy for blinding eye disease. A uniquely engineered large molecule allows researchers to compact large bundles of therapeutic DNA to be delivered into the cells of the eye.
Scientists from the German Cancer Research Center (DKFZ) and the Universities of Cambridge and Edinburgh have been studying the evolution of tumors following chemical damage. They discovered that the DNA lesions caused by the chemical are not eliminated immediately, but are passed on unrepaired over several rounds of cell division. This "lesion segregation" can drive unexpectedly…
What makes tumor cells turn murderous? The Fraunhofer Institute for Toxicology and Experimental Medicine ITEM is investigating the mechanisms of metastasis formation – and searching for approaches for new treatments in the fight against cancer. Among other things, the research team at Fraunhofer ITEM has developed a method that enables them to analyze entire lymph nodes.
A recent study conducted by the Faculty of Medicine at The Chinese University of Hong Kong (CU Medicine) discovered a novel genetic biomarker which can predict the survival of head and neck cancer patients. There are over 0.7 million new head and neck squamous cell carcinoma (HNSCC) cases globally each year. However, currently there is no clinical implementation of any genetic biomarker to…
A new analysis of the worldwide effort to sequence the coronavirus genome has revealed the scale of the genetic changes that are occurring in the virus known as SARS-CoV-2, as it spreads across the world. These changes have important implications for molecular diagnostics and potentially vaccine success. Led by the London School of Hygiene & Tropical Medicine, the research identified several…
One of the main features of colorectal cancer is that there are considerable differences between the tumors of individual patients - at genetic level and hence in terms of the response to treatment too. Researchers from the German Cancer Consortium (DKTK) have developed a method that allows these differences to be identified more effectively.
NEC Corporation announced analysis results from efforts using AI prediction platforms to design blueprints for SARS-CoV-2 vaccines that can drive potent T-cell responses in the majority of the global population. This initiative by the scientific teams within the NEC Group to help combat outbreaks of COVID-19 and support international vaccine development efforts is led by NEC OncoImmunity (NOI) in…
Drexel University researchers have reported a method to quickly identify and label mutated versions of the virus that causes COVID-19. Their preliminary analysis, using information from a global database of genetic information gleaned from coronavirus testing, suggests that there are at least six to 10 slightly different versions of the virus infecting people in America, some of which are either…
Researchers from Cambridge, UK, and Germany have reconstructed the early “evolutionary paths” of COVID-19 in humans – as infection spread from Wuhan out to Europe and North America – using genetic network techniques.
People who are at high risk of developing lung cancer, such as heavy smokers, are routinely screened with computed tomography (CT), which can detect tumors in the lungs. However, this test has an extremely high rate of false positives, as it also picks up benign nodules in the lungs. Researchers at the Massachussetts Institute of Technology (MIT) have now developed a new approach to early…
As coronavirus disease COVID-19 continues to jet and alight invisibly around the globe, scientists now report that the virus has mutated to become two strains: the older ‘S-type’ appears milder and less infectious, while the later-emerging ‘L-type’, is more aggressive, spreads more quickly, and currently accounts for about 70 per cent of cases. Worldwide, medical researchers are exploring…
Could the ability of cancer cells to quickly alter their genome be used as a weapon against malignant tumours? Researchers at Uppsala University have succeeded in developing a substance that has demonstrated promising results in experiments on both animal models and human cancer cells. The study is published in the journal Nature Communications.
Liquid biopsy offers a new dimension to detection and stratification of cancer – yet the technique also faces hurdles in becoming a mainstream diagnostic approach for more personalised treatments. A critical challenge lies in identifying the extremely low concentrations of the bio-analytes of CTC (circulating tumour cells), ctDNA (circulating tumour DNA) and exosomes in the blood.
Scientists have created one of the most detailed maps of breast cancer ever achieved, revealing how genetic changes shape the physical tumour landscape. An international team of scientists, brought together by a £20 million Grand Challenge award from Cancer Research UK, has developed intricate maps of breast tumour samples, with a resolution smaller than a single cell. These maps show how the…
Biologists have discovered a way to stop cells from one of the most aggressive types of breast cancer spreading in the lab. The study points towards new avenues of research to combat the devastating disease. The results of the study of Triple-Negative Breast Cancer by the team from the Universities of Manchester, Glasgow and Sheffield and funded by Breast Cancer Now are published in Oncogene.…
Nine people have died and more than 400 have been sickened by the new corona virus spreading in China. A few cases have been confirmed in Taiwan, Thailand, South Korea, Japan and the U.S., and on Wednesday, the World Health Organization is holding an emergency meeting on the outbreak. How worried about a new pandemic should we be? Virus researcher Ali Mirazimi, adjunct professor at the Department…
Researchers at Osaka University have developed a computer method that uses magnetic resonance imaging (MRI) and machine learning to rapidly forecast genetic mutations in glioma tumors, which occur in the brain or spine. The work may help glioma patients to receive more suitable treatment faster, giving better outcomes. The research was recently published in Scientific Reports. Cancer treatment…
An enthralling insight into the care that could be offered to cancer patients of the future was presented by cancer imaging expert Professor Regina Beets-Tan during her a keynote presentation at the recent British Institute of Radiology congress. In the session ‘Oncologic imaging: Future perspectives’, the professor outlined what a Multi-Disciplinary Team (MDT) of the future – a team in…
“Proteins are the workers in the cell, and it's important to know their shape,” says Chris Sander, PhD, director of Dana-Farber’s cBio Center in the Department of Data Sciences. Sander and his colleagues have now demonstrated a powerful “experimental evolution” method to discover details of protein shape and function, and the method may find uses across a very broad spectrum of…
Next generation sequencing, big data, microeconomics and more: At the Future of Personalized Medicine (FOPM) Summit for Oncology in Munich, experts from the fields of Pharmaceutical, Biotechnology, Hospitals, and Academics came together to discuss the Future of Medicine. Group Futurista, the organizers of the 2-day networking event, are happy to announce that the summit was a huge success. Their…
Antibiotic-resistant pathogens pose one of the greatest threats to public health worldwide. In the near future, harmless bacterial infections may no longer be treatable and may again become the most common non-natural cause of death. At the same time, the available repertoire of antibacterial agents is becoming increasingly smaller as resistance rates rise.
For the first time, researchers from Helmholtz Zentrum München and the University Hospital of LMU Munich show that deep learning algorithms perform similar to human experts when classifying blood samples from patients suffering from acute myeloid leukemia (AML). Their proof of concept study paves the way for an automated, standardized and on-hand sample analysis in the near future. The paper was…
Measles infections are not harmless – they can cause disease courses that may be of fatal outcome. Researchers of the Paul-Ehrlich-Institut (PEI) in co-operation with researchers from the UK and the Netherlands have now found out that measles viruses erase part of the immunological memory over several years. Affected persons are thus more susceptible to infections with other pathogens beyond…
A team from the Broad Institute of MIT and Harvard has developed a new CRISPR genome-editing approach by combining two of the most important proteins in molecular biology – CRISPR-Cas9 and a reverse transcriptase – into a single machine. The system, called “prime editing,” is capable of directly editing human cells in a precise, efficient, and highly versatile fashion. The approach…
Scientists at St George’s, University of London, in collaboration with researchers from Germany, the USA, Tunisia and Iran have identified a new gene associated with the neuromuscular disorder, hereditary spastic paraplegia (HSP). The study, published in Nature Communications, also highlights a potential mechanism for the disease, which is already being targeted in drug trials for Alzheimer’s…
The Nobel Assembly at Karolinska Institutet has today decided to award the 2019 Nobel Prize in Physiology or Medicine jointly to William G. Kaelin Jr., Sir Peter J. Ratcliffe and Gregg L. Semenza for their discoveries of how cells sense and adapt to oxygen availability.
Patients with the rare Loeys-Dietz syndrome suffer from aortic enlargement which may result in sudden over-expansion and a fatal aortic tear. In order to prevent this from happening, an aortic prosthesis must be implanted. A team of vascular surgeons at the University Hospital of Zurich was one of the first in the world to risk undertaking this life-saving operation on a child as an emergency…
In terms of success in revolutionary cancer treatment, molecular genetic examination procedures have developed immensely over recent years. They now range from conventional polymerase chain reactions (PCR) or fluorescence-in-situ hybridisation (FISH) to Next Generation Sequencing (NGS) with analysis of the entire exome or genome (Whole-Exome, WES or Whole-Genome, WGS) and of the transcriptome…
Two known gene mutations induce pathways that enhance pancreatic cancer’s ability to invade tissues and evade the immune system. Researchers report the molecular details of this process providing insights into druggable targets for immunotherapies. Mutations in the genes KRAS and TP53 are closely linked to pancreatic ductal adenocarcinoma, by far the most common type of pancreatic cancer.…
The key challenges and opportunities surrounding High-Content Screening have been outlined in a presentation to leading scientists and technologists at a major lab conference. Speaking at the recent SLASEurope 2019 event in Barcelona, Professor Matthias Nees from the Institute of Biomedicine in the Department of Biology at the University of Turku, Finland, outlined the potential of High-Content…
A new study harnessed the unique genetic history of the people of Finland to identify variations in DNA that might predispose certain individuals to disease, whether or not they are Finnish themselves.
Cigarette smoke can make MRSA bacterial strains more resistant to antibiotics, new research from the University of Bath has shown. In addition cigarette smoke exposure can make some strains of Staphylococcus aureus – a microbe present in 30-60% of the global population and responsible for many diseases, some fatal – more invasive and persistent, although the effect is not universal across all…
Research led by the University of Birmingham has found important new ways that the BRCA1 gene functions which could help develop our understanding of the development of ovarian and breast cancers. The research, published in Nature, was led by experts at the University of Birmingham’s Birmingham Centre for Genome Biology and Institute of Cancer and Genomic Sciences and is part of a five-year…
Cancers with the same genetic weaknesses respond differently to targeted drugs depending on the tumour type of the patient, new research reveals. The study is set to prompt changes in thinking around precision medicine—because it shows that the genetics of a patient's cancer may not always be enough to tell whether it will respond to a treatment. The researchers are already starting to design…
Having a child with a developmental disorder can cause parents to worry about the outcome of further pregnancies. In cases where the genetic mutation causing the disorder is not present in either parent it is assumed to be a one-off event with a very small chance of recurrence. But in some families, the risk of having another affected child is as high as 50%. Identifying such high-risk families…
Changes in certain sections of the genetic material of cancer cells, so-called microsatellites, can provide an important indication of whether immunotherapy may be successful in a patient with stomach or colorectal cancer. Scientists from Uniklinik RWTH Aachen, the German Cancer Research Center (DKFZ), the German Cancer Consortium (DKTK) and the National Center for Tumor Diseases Heidelberg (NCT)…
A genetic mutation that a Chinese scientist attempted to create in twin babies born last year, ostensibly to help them fend off HIV infection, is also associated with a 21% increase in mortality in later life, according to an analysis by scientists from UC Berkeley. The researchers scanned more than 400,000 genomes and associated health records contained in a British database, UK Biobank, and…
Help for patients with sickle cell disease may soon come from gene editing to fix the mutation that causes the disease and boost the patient's own protective fetal hemoglobin.
High-grade serous ovarian cancer (HGSOC) is the most common and aggressive subtype of ovarian cancer. The HGSOC tumors consist of several heterogeneous cell populations with a large number of mutations. This genetic variability makes it difficult to find drugs that would kill all the cancer cells, and to which the cells would not become resistant during treatment. Over half of the patients…
The U.S. Food and Drug Administration (FDA) granted accelerated approval to Balversa (erdafitinib), a treatment for adult patients with locally advanced or metastatic bladder cancer that has a type of susceptible genetic alteration known as FGFR3 or FGFR2, and that has progressed during or following prior platinum-containing chemotherapy. Patients should be selected for therapy with Balversa…
Chordomas are rare bone tumors for which only few options of treatment exist. Scientists and doctors from the National Center for Tumor Diseases (NCT), the German Cancer Research Center (DKFZ), and Heidelberg University Hospital (UKHD) have discovered a particular genetic trait of chordomas in advanced stages after conducting gene analysis. Their findings, published in the journal Nature…
Viruses are often used as vehicles for delivery in gene therapy because they’re engineered not to damage the cell once they get there, but neglecting to consider how the virus will exit the cell could have consequences. Some viruses use a molecule called heparan sulfate to help them attach to cells. The molecule, found in many different kinds of cells (including those from animal tissue), could…
Pathological infertility is a condition affecting roughly 7% of human males, and among those afflicted, 10-15% are thought to have a genetic cause. However, pinpointing the precise genes responsible for the condition has been difficult, due to the extensive number involved in generating and developing sperm cells. In a new paper appearing in Science Signaling, a Japanese team reports unravelling…
Tumours change over time – and not only in size. They also evolve genetically, mutate and spread through equally diverse metastases. Each is unique and present with a more or less complex structure, but rarely as a unified entity. Characterising them from A to Z and from detection to neutralisation remains a challenge for modern medicine.
‘Is it possible to know whether a treatment will work before even starting it – in other words, to predict the truth? That’s the great promise of holomics, a concept that everyone has been involved in without even noticing,’ said leading French physicist Irène Buvat, from the In Vivo Molecular Imaging French lab, who is set to focus on this subject at ECR 2019. ‘The truth,’ said…
Oxford University Radcliffe Department of Medicine researchers have developed a new method that uses a protein originally found in marine corals to visualise the flow of calcium that makes the heart beat. In a paper published in the journal Circulation Research, they used this technique to uncover the effects of genetic errors that contribute to a heart condition that is the leading killer of…
In haematology and medical oncology, there is always something new. However, the increasing stratification of cancer therapies presents an enormous challenge for clinical research. Tumour cells – those altered genetically by mutation and thus ought to be recognised by the immune system and destroyed – manage to apply diverse molecular tricks to avoid attack by the immune system. Thus, they…
Several research groups at Berlin Institute of Health (BIH) are working on digitally combating cancer. The main goal is to combine and jointly evaluate existing information. With 500,000 new cancer cases every year in Germany alone, it is worthwhile comparing experiences with different diagnostic and treatment methods, thus allowing more patients to benefit from the most promising approaches. In…
Until now, researchers haven’t been able to accurately quantify a latent form of HIV that persists in patients’ immune cells. A new genetic technique is fast and 10 to 100 times more accurate than previous diagnostics. This hidden, inactive version of HIV embeds into cells’ genomes and can persist despite otherwise successful therapies – thwarting attempts to cure the infection. Using a…
Professor Christoph M Friedrich researches the interface between man and molecule. Born in Westphalia, Germany, the professor for biomedical computer science at Dortmund University of Applied Sciences recently took up an additional role at the Institute for Medical Informatics, Biometrics and Epidemiology (IMIBE) in Essen University Hospital. In 2013, the cooperation between the two institutions…
Mariette Barbier, an assistant professor in the West Virginia University School of Medicine, and her research team are investigating ways to keep cystic fibrosis patients and other at-risk populations—including patients hospitalized for severe burns or recovering from major surgery—from catching this deadly illness.
Hypotrichosis simplex leads to progressive hair loss already in childhood. A team of researchers led by human geneticists at the University Hospital of Bonn has now deciphered a new gene that is responsible for this rare form of hair loss. Changes in the LSS gene lead to impairment of an important enzyme that has a crucial function in cholesterol metabolism. The scientists now present their…
The CRISPR genome editing technique promises to be a "transformative leap" in genetic engineering and therapy, affecting almost every area of medicine. That includes plastic surgery, with potential advances ranging from prevention of craniofacial malformations, to therapeutic skin grafts, to new types of rejection-free transplants, according to a paper in the November issue of Plastic…
It is non-invasive, delivers a chance of early diagnosis, prognostic information and sequential monitoring, and, believes Professor Francesco Salvatore, the enormous potential of liquid biopsies has still to be reached. However, the positive results obtained so far have ‘opened the door to a promising new multi-faceted group of tumour markers, at present collectively designated “liquid…
'Image Computing, including image analysis, artificial intelligence, artificial neural networks und deep learning, is starting a revolution,’ says Dr Paul Suetens, professor of Medical Imaging and Image Processing at University Hospital Leuven. Artificial Intelligence (AI) is not new – research in this field was carried out as far back as the 1950s – but, whilst in the early days AI learnt…
The most common form of Mycobacterium tuberculosis (TB) originated in Europe and spread to Asia, Africa and the Americas with European explorers and colonialists, reveals a new study led by UCL and the Norwegian Institute of Public Health.
Scientists have uncovered the cause of Saul-Wilson syndrome: A single, spontaneous gene change alters protein packaging in the cell’s Golgi complex, causing the disease.
Scientists working to bioengineer the entire human gastrointestinal system in a laboratory now report using pluripotent stem cells to grow human esophageal organoids.
A DNA-based analysis of blood cells soon after a stem cell transplant can predict likelihood of disease recurrence in patients with myelodysplastic syndrome (MDS), a group of cancerous disorders characterized by dysfunctional blood cells. Such a practice could help doctors identify patients at high risk of disease recurrence early after a transplant and help guide treatment decisions.
The genome sequences of ape parasites related to Plasmodium vivax (P. vivax), the main source of mosquito-borne malaria outside Africa, provide insights on the origin and early evolution of the human parasite. This finding could have implications for better comprehending and eradicating malaria infection worldwide.
A major study has been launched to investigate the interaction between genes and lifestyle factors and dilated cardiomyopathy (DCM). Led by Professor Stuart Cook, at the National Heart and Lung Institute, this, the largest ever DCM study, will investigate why people develop DCM, with a focus on who is most at risk of sudden death or heart failure (HF). Six hospital trusts across England –…
It doesn’t often happen that army generals switch sides in the middle of a war, but when cancer is attacking, it may cause even a gene that acts as the body’s master defender to change allegiance. Researchers at the Weizmann Institute of Science have discovered that this gene’s betrayal can occur in more ways than previously appreciated – and might even return the renegade cells to their…
Austrian researchers have accomplished an astounding feat: They created organoids that mimic the onset of brain cancer. This method not only sheds light on the complex biology of human brain tumors but could also pave the way for new medical applications.
A scientist has discovered a gene-editing technology that could efficiently and accurately correct the genetic defects that underlie certain diseases, positioning the new tool as the basis for the next generation of genetic therapies.
For the first time, a team of international researchers have mapped the family trees of cancer cells in acute myeloid leukaemia (AML) to understand how this blood cancer responds to a new drug, enasidenib. The work also explains what happens when a patient stops responding to the treatment, providing important clues about how to combine enasidenib with other anti-cancer drugs to produce…
A team led by the University of California San Diego has developed a chip that can detect a type of genetic mutation known as a single nucleotide polymorphism (SNP) and send the results in real time to a smartphone, computer, or other electronic device. The chip is at least 1,000 times more sensitive at detecting an SNP than current technology. The advance could lead to cheaper, faster and…
The exchange of a single amino acid building block in a metabolic enzyme can lead to cancer. In addition, it can impair the immune system. It thus blocks the body’s immune response in the battle against the mutant molecule and also impedes immunotherapy against brain cancer. This finding opens new insights into cancer development and progression and it also suggests that rethinking antitumor…
The fact that genetic research can reveal hereditary diseases has been transferred to medical practice for some time and, since 2010, the Gene Diagnostics Act (GenDG) has regulated permissible DNA tests in medical diagnostics and pedigree in Germany. The procedure has great potential, says Professor Jochen Taupitz - but also great risks are associated with it.
Since 2013, a new strain of meningococcal bacteria has spread rapidly in Niger and Nigeria, leading to large-scale outbreaks of meningitis. Analysis of the genetic material shows that with just two gene mutations, harmless bacteria transform into a strain that could cause major epidemics in these two countries.
More than a million neonatal deaths worldwide each year are estimated to be due to sepsis. In the UK there are approximately 90,000 admissions to neonatal intensive care units per year. Nearly all these patients receive antibiotic therapy during their hospital stay, but babies with a specific genetic change can suffer irreversible hearing loss as a result. Now, in a collaboration between…
A small study of adults with the most common form of pancreatic cancer adds to evidence that patients with BRCA1 or BRCA2 gene mutations long linked to a high risk of breast cancer have poorer overall survival rates than those without the mutations. The same study also found that those with BRCA1 or BRCA2 had better survival rates with platinum-based chemotherapy, compared with similar patients…
Cancer is a disease often driven by mutations in genes. As researchers learn more about these genes, and the proteins they code for, they are seeking smarter drugs to target them. The ultimate goal is to find ways to stop cancer cells from multiplying out of control, thereby blocking the growth and spread of tumors. Now researchers from The Scripps Research Institute are reporting an innovative…
Experts at the 70th Annual Meeting of the German Society for Hygiene and Microbiology, held in Bochum, exchanged information on newly discovered resistances. ‘Specifically, resistance against a class of antibiotics that has, so far, always been viewed as a reserve appears to be developing more intensively than previously assumed,’ explained Professor Sören Gatermann, congress president and…
Cancer is a genetic disease caused by abnormal changes over time to genes that control cell function, typically starting in a single cell (an acquired mutation) and often not linked to an inherited genetic mutation. In other words, most cancers happen by chance. Only about 5 to 10 percent of cancers are due to an inherited genetic mutation, says Monique Lubaton, MGC, CGC, cancer genetic counselor…
A Case Western Reserve University School of Medicine researcher has compiled evidence from more than 100 publications to show how obesity increases risk of 13 different cancers in young adults. The meta-analysis describes how obesity has shifted certain cancers to younger age groups, and intensified cellular mechanisms promoting the diseases. Cancer typically associated with older adults over 50…
Until very recently, Parkinson’s had been thought a disease that starts in the brain, destroying motion centers and resulting in tremors and loss of movement. New research published this week, shows the most common Parkinson’s gene mutation may change how immune cells react to generic infections like colds, which in turn trigger the inflammatory reaction in the brain that causes…
Healthy women who carry a breast cancer-causing mutation in the BRCA1 gene, not only reduce their risk of developing the disease but also their chances of dying from it if they have both breasts removed, according to new research presented at the 11th European Breast Cancer Conference. However, the study also found that for women with a mutation in the BRCA2 gene, there was no difference in their…
This year’s unexpectedly aggressive flu season reminds everyone that although the flu vaccine can reduce the number of people who contract the virus, it is still not 100 percent effective. Researchers report that a tweak to a small-molecule drug shows promise for future production of new antiviral therapies that could help patients, regardless of the strain with which they are infected. The…
Throughout life, DNA is constantly being damaged by environmental and intrinsic factors and must be promptly repaired to prevent mutations, genomic instability, and cancer. Different types of damages are repaired by numerous proteins organized into damage-specific pathways. The proteins from different pathways must be spatially and temporally coordinated in order to efficiently repair complex DNA…
Researchers led by Professor Stefan Pfister from the "Hopp Children's Cancer Center at the NCT Heidelberg" (KiTZ) have been able to draw an extremely detailed molecular map of childhood cancers. In close collaboration with the German Cancer Consortium (DKTK) and the Society for Pediatric Oncology and Hematology (GPOH), they screened almost 1,000 tumor samples from 24 cancer types for…
In standard settings, the analysis of each DNA modification requires a carefully optimised assay that runs under specific conditions. This increases cost and labour and is a severe limitation to throughput. Now, however, researchers at Stanford University and the Technical University of Denmark have come up with a new method that will enable doctors to make a more precise diagnosis, prognosis and…
Together with three other neuroscientists Professor Christian Haass, speaker of the German Center for Neurodegenerative Diseases (DZNE) Munich site and Professor at the Ludwig-Maximilians-University of Munich, receives the world’s most valuable prize for brain research. The 2018 Brain Prize, awarded by the Lundbeck Foundation in Denmark, is worth one million Euros. Awarded annually, it…
New information on dementia biomarkers is emerging, as increasing results from population studies become available. However, although the list of risk factors lengthens, the value of these predictors, and more generally the cause of disease, remain to be determined, according to Gabriel Krestin, professor and chairman of the Department of Radiology & Nuclear Medicine at Erasmus MC, University…
Testing cancer drugs on miniature replicas of a patient’s tumour could help doctors tell in advance which treatments will work, a major new study reports. The exciting new technique involves growing ‘mini tumours’ from biopsy samples – and could help end reliance on trial and error in selecting cancer treatments for patients where genetic tests are not predictive of response. Researchers…
A new genetic study by UK-based scientists suggests that immunotherapy drugs could prove to be an effective treatment for some breast cancer patients. Scientists from the Wellcome Trust Sanger Institute, near Cambridge – one of the world’s leading genome centres – and their collaborators, have identified particular genetic changes in a DNA repair mechanism in breast cancer. Led by Dr Serena…
Mutations in the p63 protein lead to a number of disorders, but none is as severe as the AEC syndrome. Scientists at Goethe University Frankfurt in collaboration with a research group from the University of Naples Federico II have now discovered that this syndrome resembles diseases such as Alzheimer’s, Parkinson’s or ALS more closely than it does other p63-based syndromes. Their results,…
Johns Hopkins Kimmel Cancer Center researchers developed a single blood test that screens for eight common cancer types and helps identify the location of the cancer. The test, called CancerSEEK, is a unique noninvasive, multianalyte test that simultaneously evaluates levels of eight cancer proteins and the presence of cancer gene mutations from circulating DNA in the blood. The test is aimed at…
Respiratory infections peak during the winter months, and most people recover within a few weeks. But for those with a rare genetic lung disease, the sniffling, coughing and congestion never end. The tiny hairlike structures called cilia that normally sweep mucus through the airways don’t work properly in people with what’s known as primary ciliary dyskinesia. When the cilia don’t brush…
Researchers have identified mechanisms that drive about 10 percent of high-risk neuroblastoma cases and have used a new approach to show how the cancer genome “hijacks” DNA that regulates other genes. The resulting insights may help scientists develop more effective therapies, including precision medicines. The research involved investigators at St. Jude Children’s Research Hospital;…
Testing the level of caffeine in the blood may provide a simple way to aid the diagnosis of Parkinson’s disease, according to a study published in the online issue of Neurology, the medical journal of the American Academy of Neurology. The study found that people with Parkinson’s disease had significantly lower levels of caffeine in their blood than people without the disease, even if they…
Using molecular scissors wrapped in a greasy delivery package, researchers have disrupted a gene variant that leads to deafness in mice. A single treatment involving injection of a genome editing cocktail prevented progressive hearing loss in young animals that would have otherwise gone deaf, Howard Hughes Medical Institute (HHMI) Investigator David Liu and colleagues report in the journal…
Scientists from the University of California, Los Angeles (UCLA) have developed a new strategy to efficiently isolate, mature and transplant skeletal muscle cells created from human pluripotent stem cells, which can produce all cell types of the body. The findings are a major step towards developing a stem cell replacement therapy for muscle diseases including Duchenne Muscular Dystrophy, which…
A new genetic test to assess breast cancer risk in women who have a family history of the disease could be introduced into clinical practice in the UK within the next few months. Devised at Manchester University NHS Foundation Trust (MFT) and the University of Manchester, researchers believe the test for high-risk groups could also help reduce the number of women needing to have surgery to remove…
DNA sequencing could soon become part of the routine diagnostic workup for patients with chronic kidney disease, suggests a new study from Columbia University Medical Center. The researchers found that DNA sequencing could identify the genetic cause of the disease and influence treatment for many patients with chronic kidney disease.
Until now, familial breast cancer has only partly been linkable to genetic risk markers. In a worldwide joint effort, researchers have now identified further genetic variants that affect the risk for breast cancer. The study, which was conducted with participation of researchers from the German Cancer Research Center (DKFZ) and Heidelberg University Hospital, has now been published in Nature.…
Scientists drilling down to the molecular roots of Alzheimer’s disease have encountered a good news/bad news scenario. A major player is a gene called TREM2, mutations of which can substantially raise a person’s risk of the disease. The bad news is that in the early stages of the disease, high-risk TREM2 variants can hobble the immune system’s ability to protect the brain from amyloid beta,…
Modifying a DNA sequence to alter a cell to cure a disorder, prevent a genetic disease being passed on to next generations, or to use genetic modification as a way to diagnose a virus: yes, these tasks are possible. The recently discovered CRISPR technique can do it all.
Combining a new compound with old drugs could provide an effective remedy against malaria and drug-resistant parasites.
Every cancer is different and every patient is different. This insight gained in personalised medicine prompted oncology researchers to focus more on the individual patient’s immune system. It is particularly the immune system’s ability to destroy cancer cells that raised hope.
Of the nearly 4 million women in the United States who have had either breast cancer or ovarian cancer, at least 1.5 million have a high risk of carrying certain types of genetic mutations that could increase their risk for additional cancers in the future.
In a bid to detect cancers early and in a noninvasive way, scientists at the Johns Hopkins Kimmel Cancer Center report they have developed a test that spots tiny amounts of cancer-specific DNA in blood.
Headlines, of late, have touted the successes of targeted gene-based cancer therapies, such as immunotherapies, but, unfortunately, also their failures.
UK-based researchers believe personalised treatment for breast cancer is within sight after uncovering what they say is the most detailed picture to date of which genetic variations contribute to development of the disease.
Genes do not exist in isolation. So far, little has been known about how the position of a gene on a chromosome affects its evolution.
Although dementia is most often seen in adults, childhood or adolescent dementia does occur. A team of researchers from the University of Würzburg believes that established therapeutic drugs might be effective against childhood dementia.
Genetics isn’t just for geneticists anymore. With the rise of direct-to-consumer genetic testing companies like 23andMe, anyone can rifle through their genotypes at hundreds of thousands of positions throughout their DNA. However, these new possibilities may have some serious drawbacks, says Alzheimer's-specialized site Alzforum.
Pancreatic cancer is one of the most deadly types of malignancies, with a 5-year survival rate after late diagnosis of only about 5%. The majority of patients—about 80%—receive their diagnosis too late for surgery. The disease spreads quickly and resists chemotherapy. In short, there is an urgent need for diagnostic tools to identify this cancer in its earliest stages.
By developing a new technique for labeling the gene segments of influenza viruses, researchers now know more about how influenza viruses enter the cell and establish cell co-infections - a major contributing factor to potential pandemic development.
Surgeons at Johns Hopkins Medicine report that their first series of a minimally invasive procedure to treat chronic pancreas disease, known as severe pancreatitis, resulted in shorter hospital stays, less need for opioids and fewer complications, compared with standard surgical approaches.
Drugs that are used in cancer therapy to erase epigenetic alterations in cancer cells simultaneously promote the production of countless mysterious gene transcripts, scientists from the German Cancer Research Center (DKFZ) now report in Nature Genetics. The substances activate hidden regulatory elements in DNA. The unusual gene activity has the potential to stimulate the immune system – a…
Current view is that cancer development is initiated from cells that acquire initial DNA mutations. These in turn provoke additional defects, and ultimately the affected cells begin to proliferate in an uncontrolled manner to develop primary tumors. These can later spread and create metastases, or secondary tumors, in other parts of the body. However, according to a study by researchers at the…
Raising the age limit for routine genetic testing in colorectal cancer could identify more cases of families affected by Lynch syndrome, a condition that accounts for around 5% of all colon cancers, according to new research to be presented at the annual conference of the European Society of Human Genetics.
Inhibition of the enzyme RIOK1 could stop the growth of tumors and the development of metastases
Finding a cure for a rare type of blood cancer could be accelerated by a new virtual platform that allows researchers easy access to data from patient samples generated by laboratories around the world. LEUKomics, which has been launched by scientists at the University of Glasgow and the University of Melbourne, is a comprehensive database describing over 100 chronic myeloid leukaemia (CML)…
SpeeDx Pty. Ltd., a developer of innovative molecular diagnostic solutions, has signed an agreement with Thermo Fisher Scientific, the world leader in serving science. The announcement was made at the 27th European Congress of Clinical Microbiology and Infectious Disease (ECCMID) in Vienna to submit its ResistancePlus MG Test for the detection of Mycoplasma genitalium to the US Food & Drug…
Genetic testing of tumor and blood fluid samples from people with and without one of the most aggressive forms of skin cancer has shown that two new blood tests can reliably detect previously unidentifiable forms of the disease.
European Hospital reports a new approach in molecular diagnostics introduced during the IASLC World Conference in Vienna.
Methyl labels in the DNA regulate the activity of our genes and, thus, have a great influence on health and disease. Scientists from the German Cancer Research Center and from the Saarland cancer registry have now revealed that an altered methylation status at only ten specific sites in the genome can indicate that mortality is increased by up to seven times. Smoking has a particularly…
From the extremely new, but not generally available, to the somewhat new… very available and highly useful… Walter Kucharczyk outlines potentials and practicalities in advanced brain tumour Imaging.
Breast cancer screening is traditionally a mammography – ultrasound business but abbreviated protocols could enable more women to be imaged with MR and receive treatment earlier, a leading researcher will show during the annual Garmisch MR meeting.
An international research team from the University Hospital of Munich (LMU), Newcastle University and the University of Liverpool has identified a gene mutation that causes a hereditary skeletal muscle disorder. The study is published in the "American Journal of Human Genetics".
From the extremely new, but not very available, to the somewhat new, very available and highly useful, Walter Kucharczyk will cover the potentials and practicalities in advanced brain tumor imaging.
Genetics stepping ahead as Spain-based researchers develop biomedical robots that can help in the study of rare diseases, neurodegenerative disorders and cancer, as well as the creation of orphan drugs.
Columbia University Medical Center (CUMC) researchers have created a computational tool that can rapidly predict which genes are implicated in an individual’s cancer and recommend treatments. It is among the most comprehensive tools of its kind, and the first that incorporates a user-friendly web interface that requires little knowledge of bioinformatics.
Scientists at Washington University School of Medicine in St. Louis have detailed the structure of a molecule that has been implicated in Alzheimer’s disease. Knowing the shape of the molecule — and how that shape may be disrupted by certain genetic mutations — can help in understanding how Alzheimer’s and other neurodegenerative diseases develop and how to prevent and treat them.
Angelina Jolie received widespread media attention in 2013 when she told the public that she'd tested positive for BRCA1, a gene associated with an increased risk of breast and ovarian cancers, and subsequently had a double mastectomy. Now research shows a spike in genetic tests for breast cancer after actress’ public disclosure, but no corresponding increase in mastectomies.
Menarini-Silicon Biosystems announced the company’s DEPArray single-cell isolation technology played a key role in a study conducted by researchers from The University of Manchester to develop a model for predicting whether small-cell lung cancer patients will be sensitive or resistant to initial chemotherapy treatment.
Our knowledge of causes and mechanisms of current and future diseases is on ice – not the perpetual ice of the polar caps but artificial ice. It is stored in biobanks at -80 to -160 °C.
Changes in the genetic make-up of tissue samples can be detected quickly and easily using a new method based on nanotechnology. This report researchers from the Swiss Nanoscience Institute, the University of Basel and the University Hospital Basel in first clinical tests with genetic mutations in patients with malignant melanoma.
For the first time, scientists know what happens to a virus’ shape when it invades a host cell, thanks to an experiment by researchers at Penn State College of Medicine and University of Pittsburgh School of Medicine. Understanding how the virus shape specifically changes could lead to more effective anti-viral therapies.
Cancer thrives when mutated cells undergo frequent division. Most anti-cancer drugs work by inserting themselves in between the DNA base pairs that encode our genetic information. This process is known as intercalation, and it can result in subtle changes to the DNA molecule’s geometric shape or tertiary structure. These structural changes interfere with the DNA’s transcription and a cell’s…
Many breast tumors grow in response to female hormones, especially estrogen. Drugs that reduce estrogen levels in the body often are effective in reducing tumor size and preventing recurrence of the cancer. But some tumors become resistant to these therapies and continue to grow and spread.
Cancer patients today can benefit from much better drugs providing treatments tailor-made to specific mutations. However, broad application is still hampered by a considerable bottleneck: fast, reliable, and cost-effective diagnosis. Agena's MassARRAY platform is addressing this bottleneck with an elegant new solution.
The Ligand PD-L1 is one of the most important targets for cancer immunotherapy with checkpoint inhibitors. But not all tumors have sufficient quantities of PD-L1 ligands on their surface. Scientists from the German Cancer Consortium (DKTK) have now shown that different types of cancer possess different quantities of PD-L1-Gen copies. Genetic analysis of the PD-L1 gene may in the future help to…
A gene called ‘Wars2’ has been pinpointed as a potential new target in treating heart disease. These latest findings are the first to show that Wars2 has a star role in driving the growth of blood vessels in the heart.
Researchers at Hospital for Special Surgery (HSS) have uncovered a potential genetic trigger of systemic autoimmune disease. The study, the culmination of more than 10 years of research, discovered virus-like elements within the human genome linked to the development of two autoimmune diseases: lupus and Sjogren's syndrome.
Cancer researchers from the Würzburg University, in cooperation with the international Cancer Genome Atlas Research Network, have identified new genetic drivers of adrenal cancer. Würzburg was the center of coordination of the European scientists.
An international team led by researchers at the Austrian Institute of Molecular Biotechnology (IMBA) in Vienna and the University of Maryland School of Medicine in Baltimore discovered that genetically determined breast cancer can be largely prevented by blocking a bone gene. An already approved drug could be quickly available and would then be the first breast cancer prevention drug.
Scientists at the University of British Columbia and Vancouver Coastal Health have proven that multiple sclerosis (MS) can be caused by a single genetic mutation – a rare alteration in DNA that makes it very likely a person will develop the more devastating form of the neurological disease.
The U.S. Food and Drug Administration approved the cobas EGFR Mutation Test v2, a blood-based companion diagnostic for the cancer drug Tarceva (erlotinib). This is the first FDA-approved, blood-based genetic test that can detect epidermal growth factor receptor (EGFR) gene mutations in non-small cell lung cancer patients. Such mutations are present in approximately 10-20 percent of non-small cell…
A multicenter research team led by Columbia University Medical Center (CUMC) has discovered a new neurodevelopmental syndrome and the genetic mutations that cause it. The discovery is an important step toward creating targeted therapies for individuals with this syndrome, which causes severe developmental delays, abnormal muscle tone, seizures, and eye complications.
Last year, scientists at the University of California San Francisco (UCSF) revealed that by measuring the proportion of both immune and cancerous cells in tumours, or ‘tumour purity,’ clinicians could more precisely predict the success of certain precision therapies. A key aspect of the discovery was access to over 10,000 samples constituting 21 different cancers.
Cancer is rarely the result of a single mutation in a single gene. Rather, tumors arise from the complex interplay between any number of mutually exclusive abnormal changes in the genome, the combinations of which can be unique to each individual patient. To better characterize the functional context of genomic variations in cancer, researchers at University of California San Diego School of…
Colon cancer is one of the most common forms of cancer in Germany. Prof. Dr. med. Sebastian Zeißig, group leader at the DFG Research Center for Regenerative Therapies Dresden (CRTD) - Cluster of Excellence at the TU Dresden and physician at the Department of Medicine I, University Hospital Carl Gustav Carus Dresden, has now shown a decisive role of gut bacteria in the regulation of intestinal…
A simple blood test can rapidly and accurately detect mutations in two key genes in non-small cell lung tumors, researchers at Dana-Farber Cancer Institute and other institutions report in a new study – demonstrating the test’s potential as a clinical tool for identifying patients who can benefit from drugs targeting those mutations.
A drug currently being trialled in cancer patients could also be used to treat an often incurable condition that can cause painful blood vessel overgrowths inside the skin, finds new research in mice led by UCL, Memorial Sloan Kettering (MSK) Cancer Center in New York and the Bellvitge Biomedical Research Institute (IDIBELL) in Barcelona.
From the beginning the accusation somehow beggared belief. A ‘mild’ virus was blamed for causing hideous malformations in babies’ heads. Brazil, a country suffering its worst recession since the 1930s, as well as political upheaval, became the focus of a worldwide healthcare scare.
It turns out that the type, how frequent, and where new mutations occur in the human genome depends on which DNA building blocks are nearby, found researchers from the Perelman School of Medicine at the University of Pennsylvania.
An international public-private research consortium has identified and validated a cellular role of a primary Parkinson’s disease drug target, the LRRK2 kinase. This important finding illuminates a novel route for therapeutic development and intervention testing for Parkinson’s, the second most common neurodegenerative disease after Alzheimer’s.
When cells die, they don't vanish without a trace. Instead, they leave behind their fingerprints in the form of cell-free DNA. In people, these tiny fragments of DNA can be found in the bloodstream.
Mom’s eyes and dad’s tumor? Cancer is due to genetic defects, some of which can be hereditary. The gene variant rs351855, for example, occurs in one in two cancer patients. A team headed by Axel Ullrich from the Max Planck Institute of Biochemistry in Martinsried identified the gene variant a decade ago. Now, they succeeded for the first time in showing that the variation exposes an otherwise…
Scientists have shown for the first time that an enzyme crucial to keeping our immune system healthy “surfs” along the strands of DNA inside our cells. The researchers used extremely powerful microscopy to watch how the enzyme AID (activation-induced deoxycytidine deaminase) moves around and interacts with other molecules.
A leading cause of cancer deaths worldwide, colon cancer is famously resistant to treatment. There are many reasons for this, but one has to do with a group of persisting cancer cells in the colon that cause relapses. Conventional therapies against them are mostly ineffective. EPFL scientists have now identified a biological mechanism that can be exploited to counteract colon cancer relapses.
As new scientific discoveries deepen our understanding of how cancer develops in children, doctors and other healthcare providers face challenges in better using that knowledge to guide treatment and counsel families and patients. In addition, as more children continue to survive pediatric cancer, that counseling may extend into a patient’s adulthood and old age.
Deep within your DNA, a tiny parasite lurks, waiting to pounce from its perch and land in the middle of an unsuspecting healthy gene. If it succeeds, it can make you sick. Like a jungle cat, this parasite sports a long tail. But until now, little was known about what role that tail plays in this dangerous jumping. Now, scientists report that without a tail, this parasitic gene can’t jump…
The first-ever images of the protein complex that unwinds, splits, and copies double-stranded DNA reveal something rather different from the standard textbook view. The electron microscope images, created by scientists at the U.S. Department of Energy's Brookhaven National Laboratory with partners from Stony Brook University and Rockefeller University, offer new insight into how this molecular…
“These dates we have access to a lot of genetic information which had previously not been available to us. For the individual, this can provide options for action with regards to leading a healthier lifestyle or to try and prevent diseases,” knows Dr. Theodor Dingermann. The senior professor of the Goethe University in Frankfurt am Main has had his own genome decoded. In parts, the result…
A team of scientists from the University of Michigan Medical School shows that the genetic material in female (but not male) cells makes tiny amounts of a special genetic material called RNA to make one of the two X chromosomes silent. They call this RNA XistAR.
A photograph may reveal how something looks, but direct observation can divulge how the objects behave. The difference can mean life or death, especially when it comes to fighting human disease. To help researchers examine exactly how human diseases work at the molecular level, Virginia Tech Carilion Research Institute scientist Deborah Kelly has developed a new set of tools to peer into the…
St. Jude Children’s Research Hospital scientists have discovered evidence of a mechanism at the heart of amyotrophic lateral sclerosis (ALS) and related degenerative diseases. The research highlights a possible new treatment strategy for the devastating disorders.
Researchers from the University of Cologne and NEO New Oncology AG today jointly published in Nature* the findings of an extensive genomic analysis of neuroblastoma, a malignant pediatric tumor of the sympathetic nervous system. In the most aggressive forms of this tumor, the researchers identified previously unknown genomic alterations leading to up-regulation of the telomerase reverse…
In a discovery that could lead to more targeted and effective treatments for certain lung and prostate cancers, researchers at the University of Virginia School of Medicine have identified two new cancer-causing gene mutations – mutations that may be particularly susceptible to cancer-fighting drugs already approved by the federal Food and Drug Administration. One of the gene mutations also may…
A unique molecule developed at Duke Medicine, the University of North Carolina at Chapel Hill and MacroGenics, Inc., is able to bind HIV-infected cells to the immune system’s killer T cells. It could become a key part of a shock-and-kill strategy being developed in the hope of one day clearing HIV infection.
An international team of researchers, led by scientists at the National University of Singapore (NUS), has identified a protein that regulates the growth of neurons by transporting key metabolic enzymes to the tips of neural cells. Their findings open up new avenues for design of drugs for ataxia, a motor coordination disorder.
Every organism—from a seedling to a president—must protect its DNA at all costs, but precisely how a cell distinguishes between damage to its own DNA and the foreign DNA of an invading virus has remained a mystery. Now, scientists at the Salk Institute have discovered critical details of how a cell’s response system tells the difference between these two perpetual threats. The discovery…
Systems biology allows the mathematical visualisation through graphs and networks of complex body processes such as disease development. The aim is to improve understanding processes and triggers of diseases, so as to access and repair a damaged network. ‘We are still approaching this issue with a lot of naivety and underestimate the complexity of biological systems, and therefore of…
When our cells copy their DNA to grow and replicate, it’s vital the process runs smoothly. To get this right, cells use a complex “machine”, made from many hundreds of components. This machine is built afresh, moment by moment as it’s needed during the copying process. This assembly–de-assembly is vital to accurate and efficient copying.
For patients with an often-deadly form of leukemia, new research suggests that lingering cancer-related mutations – detected after initial treatment with chemotherapy – are associated with an increased risk of relapse and poor survival.
Vaccination remains one of the most efficient strategies against infectious diseases, often being the best protection against infections such as hepatitis B, or influenza. European Hospital reports on expert reviews of vaccines in the pipeline and the potential of nanomedicine given during the Spanish Society of Infectious Diseases and Clinical Microbiology (SEIMC) annual meeting in…
Scientists at Karolinska Institutet and Karolinska University Hospital in Sweden have discovered a new explanation for severe early infant epilepsy. Mutations in the gene encoding the protein KCC2 can cause the disease, hereby confirming an earlier theory. The findings are being published in the journal Nature Communications.
A ground-breaking genetic testing programme for an inherited and potentially-deadly high cholesterol condition has been extended to more United Kingdom health trusts.
An LMU team has uncovered a new role for the protein Atrx, which is involved in various aspects of gene expression. The new work shows that the protein is also involved in silencing endogenous retroviral genomes integrated in cellular DNA.
Chemists at Caltech have developed a new sensitive technique capable of detecting colorectal cancer in tissue samples—a method that could one day be used in clinical settings for the early diagnosis of colorectal cancer.
American Society of Human Genetics issues recommendations on age-appropriate genetic testing in children and adolescents.
A group of researchers, lead by Vasily M. Studitsky, professor at the Lomonosov Moscow State University, discovered a new mechanism of DNA repair, which opens up new perspectives for the treatment and prevention of neurodegenerative diseases. The article describing their discovery is published in AAAS' first open access online-only journal Science Advances.
Tumor suppressor genes protect against cancer. Until now, scientists have had to perform complex experiments to detect whether or not a mutation or loss of this gene type does, in fact, cause cancer. Scientists from the German Cancer Research Center (DKFZ) have now used a new gene technology method called CRISPR/Cas9 technology for this detection.
Weizmann Institute scientists identify a potential drug molecule that stops cancer cells, but not healthy ones, from getting their “mail”.
This article discusses examples of applications of genetic analyses in coagulation disorders and haematological and oncological diseases. Professor Christine Mannhalter highlights the impact changes have on the occurrence and severity of diseases and their influence on therapy response. Report: Christine Mannhalter
Mutations in ARID1a, which are common in many cancer types, disrupt DNA damage repair in cancer cells, allowing the cancer to progress. This gene may also be an Achilles' heel when treating certain tumors, according to a team of researchers at The University of Texas MD Anderson Cancer Center.
The time needed to genetically sequence the bacteria causing tuberculosis (Mtb) from patient samples has been reduced from weeks to days using a new technique developed by a team at University College London (UCL). This could help health service providers to better treat disease, control transmission of this infection, and monitor outbreaks.
Scientists from the Hubrecht Institute and the University Medical Center Utrecht (UMC Utrecht) have developed a cell culture model of human colon cancer progression. This model mimics the situation in patients more closely than any other colon cancer model so far. It enables researchers to study processes involved in colon cancer development and find new cancer drugs.
Researchers from the Universitat Autònoma de Barcelona (UAB) and the UAB Institute of Biotechnology and Biomedicine discovered that the signalling route triggered by the ATM protein regulates DNA repair during the production of spermatocytes by meiosis, the cell division process which yields spermatozoa.
The genes BRCA1 and BRCA2 play a significant role in hereditary breast and ovarian cancers. Recent media attention has focused on American actress Angelina Jolie's decision to have her ovaries and fallopian tubes surgically removed after genetic testing for such cancers.
A magnetic resonance spectroscopy (MRS) technique that monitors biochemical changes in tissue could improve the management of women at risk of breast cancer.
Many therapeutic cancer vaccines that are currently being developed are designed to direct the immune system against altered cancer-cell proteins.
At the close of the Gastrointestinal Medicine and Surgery meeting in Leipzig, Professor Peter R Galle, Congress President of the German Society for Gastroenterology, Digestive and Metabolic Diseases, spoke with EH about today’s emphasis on interdisciplinary exchange and the need to augment cooperation even further. Report: Chrissanthi Nikolakudi
Johns Hopkins researchers say they have discovered a chemical alteration in a single human gene linked to stress reactions that, if confirmed in larger studies, could give doctors a simple blood test to reliably predict a person’s risk of attempting suicide.
The Robert Koch Award will be shared between Professors Casanova and Fischer; Professor Bujard is being awarded the Robert Koch Gold Medal
USA - Oocyte modification to eliminate inherited mitochondrial defects in a human embryo was the subject of a globally scrutinised Food and Drug Administration (FDA) hearing held in February.
Two things that radiologists resist – structured reporting and (computer-assisted) quantification – are the very things that Gabriel Krestin believes are essential to advance diagnosis in the brave new world of omic-medicine that is emerging.
In a study that began in a pair of infant siblings with a rare heart defect, Johns Hopkins researchers say they have identified a key molecular switch that regulates heart cell division and normally turns the process off around the time of birth. Their research, they report, could advance efforts to turn the process back on and regenerate heart tissue damaged by heart attacks or disease.
‘The disease “cancer” is increasingly classified into sub-groups. Today, we are already dealing with a number of orphan diseases,’ says Professor Richard Greil MD, head of LIMCR at University Hospital Salzburg.
Healthcare is undergoing a major change set to offer a real prospect of far more genetically targeted treatments, according a leading human geneticist Sir John Burn, Professor of Clinical Genetics at Newcastle University, England.
A British teenager, 17-year-old Fred Turner, has won a major accolade for building a DNA testing analyser in his own home for a few hundred euros.
Israel - Researchers are using breath-test technology to detect volatile organic compounds to tell whether a patient has stomach cancer.
‘All human body cells contain the same DNA, but every type of cell – for example a muscle cell compared to that of a nerve – has a different gene expression pattern’, said Dr Sonja Stadler, speaking at the 2012 congress of DGKL (German Society for Clinical Chemistry).
The international research project ‘The Definition of new types of tumours containing potential mutations sensitivity to drugs’ has begun in Petrov Research Institute of Oncology in St Petersburg, the oldest Russian oncology institute.
‘We aim to develop an understanding of which novel research activities could bring benefits for patients,’ explained Professor Christof von Kalle, Director of the Department of Translational Oncology, NCT (German National Centre for Tumour Diseases) and the German Cancer Research Centre (DKFZ), speaking on translational activities during the New Cancer Targets gathering in Heidelberg this…
‘The disease “cancer” is increasingly classified into sub-groups. Today, we are already dealing with a number of orphan diseases,’ says Professor Richard Greil MD, head of LIMCR at University Hospital Salzburg.
Renowned French and German cardiovascular researchers gathered in October at the French Embassy in Berlin for a one-day symposium entitled ‘The Frontiers of Cardiovascular Research: From Basic Concepts to Novel Approaches in Therapy and Prevention’
BRAF is a protein that plays an important part in the transmission of growth signals. In a mutated state it can lead to uncontrolled cell growth. Around every second malignant melanoma – the deadliest and most aggressive form of skin cancer – has a certain mutation of the BRAF gene.
Working with mice, Johns Hopkins researchers have shed light on the activity of a protein pair found in cells that form the walls of blood vessels in the brain and retina, experiments that could lead to therapeutic control of the blood-brain barrier and of blood vessel growth in the eye.
Personalised cancer medicine is much discussed, with high expectations for biomolecular decoding of various tumours and the global pharma industry developing targeted drugs to attack tumours at a biomolecular level.
A team of scientists from Johns Hopkins and other institutions report that restoring tiny, hair-like structures to defective cells in the olfactory system of mice is enough to restore a lost sense of smell.
Using precise information about an individual’s genetic makeup is becoming increasingly routine for developing tailored treatments for breast, lung, colon and other cancers. But techniques used to identify meaningful gene mutations depend on analyzing sequences of both normal and mutant DNA in tumor samples, a process that can yield ambiguous results.
The German Association of the Diagnostics Industry (VDGH) announces encouraging results from a new member survey, Susanne Werner reports.
Collaborations between Johns Hopkins and National Taiwan University researchers have successfully manipulated the life span of common, single-celled yeast organisms by figuring out how to remove and restore protein functions related to yeast aging.
Despite huge increases in spending over the last three decades, progress in dealing with the most frequent and burdensome diseases is appalling. The EU Flagship Pilot IT Future of Medicine (ITFoM) could remedy that. The flagship‘s investments of 1 billion euros in the course of the next decade are expected to save up to 100 billion euros per year in health expenditures in the future.
Prostate cancer is the most frequently diagnosed cancer in males in developed countries and the sixth leading cause of cancer death worldwide. One reason for the increase in diagnosis is the widespread uptake of the prostate-specific antigen (PSA) test, capable of detecting slow growing cancers that might otherwise go undetected.
In the first month of 2011, the Centre for Pharmacogenetics and Pharmacogenomics at the Paracelsus Private Medical University in Salzburg, Austria, officially opened its doors. Why have pharmacogenetics and pharmacogenomics so increasingly important in medical research? We asked the head of the new research centre, Professor Markus Paulmichl.
For some time, German pathology has only been in the background of the medical disciplines. However, during the last ten years the profession stepped up to the fore. In the face of molecular medicine developments, the German Association of Pathologists redefined its members position with revived self-confidence.
Small genetic differences between individuals help explain why some people have a higher risk than others for developing illnesses such as diabetes or cancer. In the journal Nature, the 1000 Genomes Project, an international public-private consortium, published the most comprehensive map of these genetic differences, called variations, estimated to contain approximately 95 percent of the genetic…
Recently, the prevalence of diabetes mellitus in the Czech Republic reached 7-8% (783,321 diabetics were treated last year – 419,362 females and 363,959 males) but this figure leaps to 25-30% for diabetes related hospitalisations.
Though heart disease is a major cause of disability and death, very little is understood about its genetic underpinnings. Recently, an international team of investigators at the Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Sanford-Burnham Medical Research Institute (Sanford-Burnham) and other organizations shed new light on the subject. Studying Drosophila…
Colorectal cancer is a suitable target for screening when it has a relatively high incidence – the second highest cancer incidence among women and third among men in Europe – and has a high mortality (~50% are expected to die of the disease), but can be cured if detected at an early stage.
Brain tumors are the primary cause of cancer mortality in children. Even if a cure is possible, young patients often suffer tremendously from the stressful treatment which can be harmful to the developing brain. Therefore, there is an urgent need for target-oriented, gentle treatment methods. The most important childhood brain tumors are medulloblastoma, which is diagnosed in approximately one…
Two genes containing mutations known to cause rare familial forms of parkinsonism are also associated with the more common, sporadic form of the disease where there is no family history, researchers have found. An International study reveals common gene variants in people of European descent.
The Innovation Prize for outstanding, application-oriented ideas in life sciences has been awarded by the Working Group of BioRegions at the Biotechnica in Hanover to research groups from Heidelberg, Munich and Ulm. Professor Lisa Wiesmüller, of the Women’s Hospital, University of Ulm, received the €2,000 prize for developing a test system for the identification and early detection of breast…
Cancer research is progressing rapidly. For a large part, biology contributes to its most significant advances, which aim to renew the whole model of cancer care.
In the genetic material of cancer cells, important growth inhibitors are often switched off by chemical labels in the DNA. Scientists of the German Cancer Research Center and the Ohio State University, USA, discovered in mice that cancer-typical DNA labeling occurs long before the first symptoms of leukemia appear. A test for the genetic label might therefore help to detect a developing cancer at…
Roches NimbleGen´s CGH microarray platform was used to generate the highest-resolution map of human genome copy number variation. Recent advances in microarray technology have led to the discovery of extensive copy number variation in the human genome, including DNA copy number gains (duplications), losses (deletions), and multiallelic or complex rearrangements.
The 14th Eppendorf Young Investigator Award 2008, worth ?15,000, was presented at MEDICA in November.
The US Agency for Healthcare Research and Quality (AHRQ) will fund a new project to develop four computer-based decision-tools that will help clinicians and patients answering questions like: When to use genetic tests? How to deal with the results? Or which treatment could be the best?
“Molecular breast imaging” (MBI), a new scintigraphy method developed by US researchers, might improve early detection of breast cancer in women with dense breasts. The results of an initial clinical study were recently presented at the Breast Cancer Symposium of the American Society of Clinical Oncology (ASCO) in Washington, DC, USA.
The inverse epidemiological association between serum levels of HDL-C and risk of coronary artery disease (CAD) is graded and has been validated in multiple studies. However, there is remaining controversy whether a low HDL-C should not predominantly be considered a marker of poor lifestyle (obesity, lack of exercise, hypertriglyceridemia, diet, etc.), rather than a primary causal agent for…
Roche reports that, using its NimbleGen CGH arrays, researchers* have identified a recurrent reciprocal genomic rearrangement of chromosomal region 17q12 in foetal samples with congenital anomalies that is also associated with paediatric renal disease and epilepsy.
So called circulating tumor cells (CTC) seem to be an indicator of the progression and therapy outcome for cancer patients. US- and UK-researchers have shown concurrently that blood tests of CTC's are as reliable as painful biobsies to predict how well patients respond to therapy.
Mammography is the common way to detect breast cancer. But it's not perfect: it struggles to image dense glandular tissue or early-stage tumours. Magnetic resonance imaging (MRI) offers best sensivity but it is expensiv and not always specific enough. Now researchers have come up with another option: a scanner that integrates thermoacoustic and photoacoustic tomography to achieve dual-contrast…
While in Europe experts still discuss whether mammography screening is the ideal tool to save women from breast cancer, the Wall Street Journal investigated if mammography is really enough. Physicians claim that women with higher risk to develop breast carcinoma should receive MRI or ultrasound.
EH correspondent H-C Pruszinsky reports
Researchers define the role of signal molecule c-Met
Lung cancer has a high mortality: Despite prevention programms each year 1.3 million people die due to malignant mutation of lung cells. It's the most common cause of cancer-related death in men, second most common in women.
Carrying a mutated BRIP1 gene doubles the risk of breast cancer — by aged 70 these women's risk rises from 1-in-12 to 1-in-6.
Guidelines updated for high-risk women aged between 20-49 years.
UK - A complex chain of molecular triggers involved in the development of malignant melanoma has been unravelled
A medical failure or biological necessity?
An unparalleled legal challenge has been underway in the EU regarding the number of human gene patents held by US-based corporation Myriad Genetics.
Combining multislice CT equipment with procedures used in nuclear medicine such as PET-CT (positron emission tomography) and SPECT-CT (single photon emission computed tomography) offers fascinating perspectives of capturing morphological image and functional diagnostics.