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Search for: "genetic mutations" - 250 articles found

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Article • Experts explore often-overlooked patient group in oncology

A rising tide: cancer in young adults

For a young adult, a cancer diagnosis hits different: a more aggressive disease course, greater disruptive potential, longer survivorship. Yet most healthcare institutions seem poorly prepared for this growing patient group. A plenary session at the NCCN 2026 Annual Conference examined a striking shift in modern oncology: the rising incidence of cancer in adolescents and young adults (AYA).

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Article • Personalised medicine

Gene-editing technologies: from lab to patient

Gene-editing technologies show great promise for medical treatments and research, with the potential to cure thousands of genetic diseases. At the 2025 World Medical Innovation Forum in Boston, leading experts explored the possibilities and challenges of these rapidly advancing tools. The case of Baby KJ Muldoon – an infant treated with a personalised CRISPR therapy developed in just seven…

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Article • Personalizing stroke care

Advancing genomic medicine from promise to practice with digital technology

Stroke patients in four NHS hospitals are now receiving genetic tests that determine whether a commonly prescribed drug will work for them – a breakthrough that could transform treatment for millions. Digital approaches are spearheading a drive to help make genomic medicine part of everyday care. The role of digital tools was a central theme at the HETT (Healthcare Excellence Through…

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Anastasia Khvorova, PhD

Pioneering work in the field of RNA-based therapies for Huntington's disease

RNA researcher Anastasia Khvorova, PhD, professor of RNA therapeutics at UMass Chan Medical School, will receive this year's Else Kröner Fresenius Prize for Medical Research on May 15, 2025. The award ceremony will be a part of the festive event together with the Fresenius SE & Co. KGaA celebrating the 100th birthday of Else Kröner, at the Städel Museum in Frankfurt am Main.

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Article • Artificial intelligence meets internal medicine

Medical AI: Enter ‘dea ex machina’

In the world of theatre, the ‘deus ex machina’, the god from the machine, is a dramaturgical trick to resolve seemingly unsolvable conflicts. Can artificial intelligence (AI) also be such a universal problem solver for internal medicine? At the Annual Congress of the German Society of Internal Medicine (DGIM), Dr Isabella Wiest explored the potential – and limitations – of AI helpers.

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Article • Interdisciplinary diagnostics

Crossing the radiology-pathology boundary

In diagnostics, there used to be a hard divide between radiology and pathology, where methods were largely considered incompatible with one another. However, to pave the way for next-generation diagnosis, Professor Regina Beets-Tan urged both sides to come out from their trenches and appreciate the synergies the fields have to offer. In her presentation at the European Congress of Radiology (ECR)…

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News • Promising application of "gene scissors"

Using CRISPR-Cas9 to treat anaemia

ETH Zurich molecular biologist Mandy Boontanrart is researching gene therapies that could be used to cure two of the most common types of inherited anaemia: beta thalassaemia and sickle cell anaemia.

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Article • Cancer screening

The need for breast imaging for transgender patients

The need for breast cancer screening of transgender individuals has been a topic of uncertainty until recently, due to lack of reliable patient data, consensus by radiologists, published research, and recommended guidelines. A 2021 survey of Society of Breast Imaging (SBI) members revealed that ‘breast radiologists differ in their practice and knowledge regarding screening of transgender…

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Article • Prediction for breast, ovarian, cervical, and endometrial carcinoma

New test detects four women’s cancers from cervical screening samples

What if a test analysing cervical cells from a gynaecological swab could be used to detect four different female cancers at an early stage and also predict cancer risk over a healthy woman's lifetime? Researchers at the EUTOPS Institute in Innsbruck, Austria, are developing tests to do just that for breast, ovarian, cervical, and endometrial cancer detection.

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News • Alveolar rhabdomyosarcoma

Promising new treatment for deadly pediatric tumor

Alveolar rhabdomyosarcoma is a rare pediatric tumor. For more than 40 years there has not been any new development regarding treatment. Research led by Prof. Dr. Anton Henssen at Charité University Berlin has now identified a new therapeutic option, using a drug that is currently under investigation for other types of cancer.

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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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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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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.

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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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