Search for: "genetic mutations" - 331 articles found

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News • Fibrodysplasia ossificans progressiva

FOP: Origin of rare disease

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.

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News • Relapse research

Multiple myeloma: Tracking down resistant cancer cells

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…

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Article • NGS solution

Using liquid biopsy to detect recurrent breast cancer earlier

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…

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News • NGS-based diagnostics

Collaboration on early detection of recurrent breast cancer

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…

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News • Resistance mechanism discovered

How staphylococci protect themselves against antibiotics

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.

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News • 'CRyPTIC' research

Global tuberculosis study identifies genetic causes of drug resistance

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.…

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News • Coronavirus inhibition

Highly potent antibody against SARS-CoV-2 discovered

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.

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News • Rapid detection

Molecular diagnostic test for Covid-19, Flu, RSV receives CE mark

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…

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News • Promising algorithm

AI tool improves breast cancer imaging accuracy

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…

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News • Understanding oncogenesis

How normal cells turn into liver cancer cells

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…

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Article • Precision oncology

Personalized health and genomics: Minimizing collateral damage

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…

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Article • Omics in cancer care

Personalizing laboratory medicine

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…

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News • Controlling KRAS

New targeted gene therapy could stop lung cancer progression

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.

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News • Tool to identify tumour mutations

Machine learning fuels personalised cancer medicine

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…

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News • Population bottlenecks

Random effects make it difficult to optimise antibiotic therapy

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…

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News • Cardiology research

Dynamic heart model gives insight into cardiac disease progression

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…

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News • Genetic alterations

Same mutation, different cancers: researchers explore connections

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…

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Article • Oncology

Pancreatic cancer - current challenges and future direction

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…

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News • Coronavirus epidemiology

A cloud-based software for the surveillance of SARS-CoV-2 variants

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…

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News • Neuroscience

Potential new approach for epilepsy control

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.

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News • Inner ear reseach

Hearing loss: newfound gene gives insights into the cochlea

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…

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Article • dPCR and HSAFM

Low-cost technique for missed genetic mutations

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…

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News • Vision for vision

Reversing blindness: Award for cone optogenetics gene therapy

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.

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News • Battling bacteria

Stress test finds cracks in the armor of harmful hospital bugs

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…

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News • Cancer research

'Gene ferry' improves immune therapies

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…

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News • Reverse genetics system

SARS-CoV-2: An easier and quicker way to analyse mutations

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…

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News • Biomarker research

"Jumping" genes might protect against AML and other blood cancers

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…

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News • Mitochondria research

Colorectal cancer: Mutations in overlooked DNA could have huge impact on survival

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…

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News • Léopold Griffuel Award

Childhood cancer research: Award for Stefan Pfister

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…

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News • SARS-CoV-2 detection and sequencing

'Nirvana': Fast, portable test diagnoses Covid-19, tracks variants

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…

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News • Intrahepatic cholangiocarcinoma

A new approach for treating bile duct cancer

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…

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News • Malignant brain tumor

Successful test for mutation-specific vaccine against diffuse gliomas

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.…

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News • Acidity analysis

Harnessing AI to identify cancer cells

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…

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News • BMMF research

Novel pathogens: a driver for colorectal cancer?

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…

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News • Mutations of SARS-CoV-2 & Co.

Tracking virus variants faster with sequencing

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…

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News • 53,831 genomes analysed

Rare diseases: huge dataset brings new insights

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…

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News • Lessons learned from Covid-19

A 'blueprint' for preventing the next pandemic

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.

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News • Microbiome research

'Organs-on-a-chip' system sheds light on interactions between gut and brain

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…

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News • Viral sequencing

How SARS-CoV-2 spreads and evolves

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.

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News • Mapping the 'family tree' of cancer

Metastasis monitoring: CRISPR tool catches cancer 'in the act'

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…

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Article • He who seeks, finds

Pros and cons of MRI in breast cancer diagnosis

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…

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News • Variant COH.20G/501Y

New Coronavirus strain discovered

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…

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News • The role of the MLL4 gene

New insights on the Kabuki syndrome

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…

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Article • Glioma detection

Breakthrough liquid biopsy test to detect mutations in brain tumours

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…

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News • Tackling colon cancer

Researchers find 'Achilles’ heel' of cancer stem cells

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…

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Video • Resistance pulse

New study reveals how melanoma cells survive targeted therapies

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…

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Article • Clinical decision support

AI deep learning of PET/CT images to support NSCLC treatment

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…

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News • Cancer research

New therapeutic approach against leukemia

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.

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Video • List by top clinicians and researchers

Top 10 medical innovations for 2021

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…

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Article • Overheard at AAIC 2020

Exciting Alzheimer's findings: ’flu vaccines and P-tau217

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…

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News • Neuronal disorder

Tracking the onset of ataxias

“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…

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Article • Neuro-oncology

Challenges in brain tumour segmentation

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…

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News • Researchers use supercomputer

New insights into hepatitis B

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.

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Article • The difficulty? Unpredictability in the entire process

Immunotherapy for lung cancer patients

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.

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News • Neurodegeneration research

Developing a rapid drug-testing platform for Alzheimer’s

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…

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News • Ophthalmology

Nanoparticles for gene therapy cure eye diseases

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.

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News • Lesion segregation

Explaining the extreme complexity of mutations in tumor genomes

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…

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News • Cancer research

Lymph node analysis to hunt down metastases

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.

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News • HNSCC diagnostics

Head and neck cancer: Novel prognostic biomarker could double survival

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…

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News • Adapt and overcome

Coronavirus evolving: How SARS-CoV-2 mutations could delay vaccine development

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…

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News • Coronavirus analysis

AI-generated design blueprints for SARS-CoV-2 vaccines published

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…

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News • Coronavirus mutations

Tracking COVID-19 with genetic ‘barcode’

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…

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News • New sensor tech

A more reliable way to early detect lung tumours

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…

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Article • Coronavirus disease research

Seeking a COVID-19 antidote: the potential of ACE2

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…

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News • Susceptibility to future drugs

Exploiting the carelessness of cancer cells

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.

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Article • On the way to diagnostic mainstream

Liquid biopsy to advance cancer diagnosis

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.

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News • Zooming in

Breast cancer map reveals how mutations shape the tumour landscape

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…

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News • Triple-negative forms impeded

Scientists stop breast cancer cells from spreading in the lab

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.…

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News • SARS-like virus from China

What we know about the new corona virus

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…

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News • MRI & machine learning

A look into the genome of brain tumors

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…

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Article • The future has begun

Cancer care 2035: multi-disciplinarity is key

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…

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News • Determining protein structures

3Dseq: New technique to solve biomedical puzzles

“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…

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News • Networking event

Future of Personalised Medicine Summit was a success

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…

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News • Rapid emergence of antibiotic resistance

How P. aeruginosa becomes resistant during CF treatment

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.

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News • Deep learning vs. AML

AI-driven blood cell classification supports leukemia diagnosis

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…

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News • Tricky virus

Measles infections erase 'immune memory' – vaccination confers protection

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…

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News • CRISPR 2.0

Is 'prime editing' the next step in gene editing?

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…

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News • Inherited neuromuscular disease HSP

Genetic cause for hereditary spastic paraplegia identified

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…

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News • Vascular surgery

New lease of life thanks to new aorta

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…

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Article • Methods, quality assurance, commercial providers issues

Molecular testing takes a huge leap

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…

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News • Genetic mutations

'Invade and evade': Deciphering pancreatic cancer’s tactics

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.…

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Article • Personalized medicine

Exploring the potential of High-Content Screening

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…

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News • Pathogenic microbes

Cigarette smoke makes MRSA superbug bacterium more drug-resistant

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…

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News • Ovarian and breast cancer

New insights into BRCA1 gene functions

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…

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News • Oncology

Response to gene-targeted drugs depends on cancer type

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…

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News • In future pregnancies

Identifying the risk of recurrence of developmental disorder

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…

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News • Microsatellites

Stomach and colorectal cancer: AI identifyies patients for immunotherapy

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)…

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News • Gene-editing

CRISPR baby mutation significantly increases mortality

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…

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News • ctDNA vs. HGSOC

Taking 'molecular snapshots' of ovarian cancer

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…

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News • Personalized medicine

FDA approves first targeted therapy for metastatic bladder cancer

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…

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News • Rare bone cancer

Targeted approach to therapy for chordomas

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…

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News • Virology

Trapping viruses inside a cell: harmful or helpful?

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…

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News • Histones & protamines

Infertility's roots may lie in our DNA

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…

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Article • Morphology, texture, function, metabolism

Radiomics will transform tumour characterisation

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.

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Interview • Predicting the truth from hybrid imaging

Holomics: a trendy but complex topic

‘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…

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News • Cardiology & calcium

First look at the ‘molecular switch’ that makes our heart beat

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…

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Article • Therapeutic progress

Cancer: riding the wave of innovation

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…

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News • AI, IT, data management

Digital attack on cancer

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…

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News • Dormant virus

Finding 'hidden' HIV in cells

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…

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Interview • Between man and molecule

The hunt for genetic risk factors

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…

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News • Hypotrichosis

Hair loss? This gene might be to blame

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…

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Video • Gene editing

The future of CRISPR in plastic and reconstructive surgery

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…

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Article • Cancer management

The enormous potential of liquid biopsy

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…

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Article • The revolution escalates

AI image analysis: Opportunity or threat?

'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…

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News • Myelodysplastic syndrome

Genetic testing helps predict disease recurrence

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.

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Article • Weak heart

The many causes of dilated cardiomyopathy

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 –…

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News • Switching sides

How cancer cells 'brainwash' their foes

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…

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News • Tumor research

Growing brain cancer in a dish

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.

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News • Acute myeloid leukaemia

Researchers draw AML ‘family trees’ in patients treated with enasidenib

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…

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News • Single nucleotide polymorphism

Biosensor chip detects genetic mutation with higher sensitivity

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…

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News • Brain cancer

Typical mutation in cancer cells stifles immune response

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…

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Article • Questioning the Genetic Diagnostics Act

Self-help healthcare or face a penalty?

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.

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News • Sepsis treatment

Bedside testing can prevent antibiotic-induced hearing loss in new-borns

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…

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News • New study

Pancreatic cancer: Chemotherapy goes platinum

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…

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News • High throughput screening

Tumor-like spheres to help discover smarter cancer drugs

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…

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Article • Hygiene and microbiology meeting

No all clear for nosocomial infections

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…

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News • Fact-checking

Inherited cancer and genetic testing - looking beyond the myths

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…

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News • A disconcerting trend

Obesity is shifting cancer to young adults

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…

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News • Triggering inflammatory reactions

Parkinson’s gene initiates disease outside of the brain

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…

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News • Breast cancer

Double mastectomy slashes risk - but not for all women

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…

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News • Small molecule, huge effect

Progress toward a new flu treatment, thanks to a small tweak

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…

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News • DNA repair

Proteins: Sentinels of the Genome

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…

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News • Screening tumor samples

A molecular map of childhood cancers

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…

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News • DNA analysis

Magnetic biosensor array simplifies cancer detection

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…

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News • Award

DZNE researcher receives world’s top Brain Prize

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…

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Article • Microbleed detection

A new hope for Alzheimer's prediction

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…

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News • Replicas from the lab

Growing 'mini tumours' to personalise drug treatment

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…

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Article • Immunotherapy

The DNA mismatch repair mechanism

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…

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Article • AEC syndrome

Cause of severe genetic disease identified

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,…

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News • CancerSEEK

Single blood test screens for 8 cancer types

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…

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News • Primary ciliary dyskinesia

Molecular roots of genetic lung disease identified

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…

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News • Discovery

‘Hijacker’ drives cancer in some patients with high-risk neuroblastoma

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;…

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News • High levels, low levels

How caffeine may help diagnose Parkinson’s disease

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…

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News • Genome editing

CRISPR treatment may prevent hearing loss

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…

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News • Duchenne

Researchers create skeletal muscle from stem cells

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…

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Article • Breast cancer detection

New DNA test could prevent thousands of mastectomies

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…

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News • Clinical value

Kidney disease diagnosis made easier through DNA sequencing

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.

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News • Early diagnostics

Sixty-five new genetic risk markers for breast cancer discovered

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.…

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News • Brain disease

Risks – and benefits – of the Alzheimer’s gene

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,…

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News • Biomarker validation

Plodding toward a pancreatic cancer screening test

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.

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News • DNA manipulation

Chaos in cancer cells: Mysterious gene transcripts after therapy

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…

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News • Cancer development

Tumor induction from a distance

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…

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News • Global database

Scientists create leukaemia online tool to aid search for cure

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)…

News • Laboratory

Partnership for molecular diagnostic test

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…

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News • DNA

DNA labels predict mortality

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…

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Article • Breast Cancer

Mammography screening with MR

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.

News • iCAGES

New precision medicine tool helps optimize cancer treatment

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.

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News • Study

Molecular Roots of Alzheimer’s

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.

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News • Celebrity

The ‘Angelina Jolie’ Effect on breast cancer screening

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.

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Article • Research

First accurate simulation of a virus invading a cell

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.

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Solid-State nanopores unravel twisted DNA mystery

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…

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News • Counterproductive

Breast tumors evolve in response to hormone therapy

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.

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News • Research

New Biomarker for cancer immunotherapy?

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…

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News • Discovery

Potential genetic trigger of autoimmune disease

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.

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News • Mutation

Prevention of genetic breast cancer within reach

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.

News • Politics

Liquid biopsy test from Roche gets FDA approval

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…

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News • Genetic mutations

New neurodevelopmental syndrome identified

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.

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News • Cancers

Computer program uncovers hidden genomic alterations

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…

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Article • Datasets

Benefits from The Cancer Genome Atlas

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.

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News • Breakthrough

Gut bacteria drive growth of stem cells in colon cancer

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…

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News • Lung cancer

“Liquid biopsy” blood test detects genetic mutations

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.

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News • PIK3CA

Cancer drug could treat blood vessel deformities

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.

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Article • Virus

The Zika mystery: scapegoat or villain?

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.

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Gene variation promotes uncontrolled cell division

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…

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News • Surfing DNA

Enzyme catches a ride to fight infection

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.

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Treating colon cancer with vitamin A

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.

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News • Research

Why do children develop cancer?

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.

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News • “Jumping Gene” Mystery

Grabbing a parasite by the tail

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…

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News • State-of-the-art

First pictures of cells' DNA-copying machinery

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…

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Interview • Genom

I looked into my genes and changed some habits

“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…

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News • Sex-linked disorders

X-Citing X Chromosome

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.

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News • Toolkit

Microchip helps to visualize breast cancer proteins

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…

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News • Mystery solved

Key Element of cellular organization found

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.

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News • Mutations

Cancer Genes open door to targeted treatments

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…

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News • Cancer

New molecular markers for high-risk neuroblastoma

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…

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News • Protein DART

New shock-and-kill strategy against HIV

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.

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News • Neurotransmitters

Coordinating traffic down the neuronal highway

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.

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News • Cancer Treatments

The DNA damage response goes viral

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…

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Article • Network science

Discovering what causes diseases

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…

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News • DNA

Keeping the cellular production line on track

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.

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Article • Infectious diseases

Developing vaccines and nanotechnology

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…

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News • Endogenous retroviruses

Silence is golden …

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.

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Novel DNA repair mechanism brings new horizons

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.

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News • Gene defects

Cancer brake failure leads to brain cancer

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.

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Article • Research

Genetic alterations

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

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Test could identify resistant tuberculosis faster

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.

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Article • Mutations

Dutch scientists build colon cancer progression model

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.

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Article • Interview

Multidisciplinarity is the key for gastroenterologists

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

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Oocyte modification

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.

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Researchers Find Protein 'Switch' Central to Heart Cell Division

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.

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New cancer research targets

‘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…

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Bilateral initiation

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’

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Sequencing cancer mutations: There´s an app for that

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.

Hopkins Scientists Turn on Fountain of Youth in Yeast

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.

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Personalized medicine could help to save 100 billion Euros

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.

Article • PSA

A two-step biomarker approach for prostate cancer

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.

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Article • Medical research

Pharmacogenetics - Researchers focus on customised medication for patient groups

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.

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1000 Genomes Project publishes analysis of completed pilot phase

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…

Deadly disease, dismal summary

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.

Mapping heart diseases

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…

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Screening and colorectal cancer

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.

International Cancer Genome Project starts in Germany

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…

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Parkinson's Disease: genetic risk factors identified

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.

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A promising new breast cancer test

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…

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The biology of cancers

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.

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Silenced genes as a warning sign of blood cancer

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…

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Genome Structural Variation Consortium used Roche technology

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.

Spotlight Cholesterol: the role of diet, statins and genetics

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…

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Arrays to detect genomic disorder

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.

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Chip predicts progression of cancer therapy

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.

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A new imaging tool?

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…

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4th International Multislice CT Symposium

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.

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