Search for: "mutations" - 250 articles found

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News • Research on large foundation models

Reducing bias in pathology AI

A study highlights performance differences in computational pathology systems, depending on demographic profiles associated with histology images. The researchers also propose a way to fix this bias.

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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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Article • Imaging in characterisation and classification of tumour types

Taking a closer look at breast cancer

Breast cancer has no “one size fits all” therapy approach: subtypes differ significantly in malignancy, progression, and treatment response. Therefore, the more is known about the type of carcinoma in a patient, the better the outcome. At the annual scientific EUSOBI meeting in Valencia, Dr Ramona Woitek pointed out the potential of novel imaging techniques and computational image analysis…

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Article • Imaging controversial

MRI breast cancer screening of high-risk women: benefits outweigh drawbacks

Breast MRI is increasingly being used as a primary breast cancer screening exam for young women. It brings benefits in women with dense breasts, who are at an elevated risk of developing breast cancer. The technique is also being ordered as a supplemental screening exam following mammography or breast ultrasound for women of all ages at high risk. But use of breast MRI as a screening tool is…

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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 • Progress, limitations, and opportunities

Precision oncology: incredible potential, but not a miracle cure

Unanswered questions are hampering clinicians in their efforts to get the best out of a precision medicine approach for their patients. Speaking at the Genomics and Precision Medicine Expo in London at the end of May, cancer educator Dr Elaine Vickers said the benefits of being matched to an investigational drug remain questionable for most people with advanced cancer.

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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 • AI-based personalized medical care

I³lung: EU launches lung cancer initiative

This summer, The European Commission launched I3lung, a new research initiative as a part of Horizon Europe, the EU’s research and innovation program. This research initiative aims to create a cutting-edge, decision-making tool to help clinicians and patients select the best lung cancer treatment based on each patient’s specific needs and circumstances.

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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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Video • Prevention of triple-negative BRCA

Breast cancer vaccine: clinical trial started

Researchers from Cleveland Clinic have opened a novel study for a vaccine aimed at eventually preventing triple-negative breast cancer, the most aggressive and lethal form of the disease. This phase I trial is designed to determine the maximum tolerated dose of the vaccine in patients with early-stage triple-negative breast cancer and to characterize and optimize the body’s immune response. The…

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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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Sponsored • Tools for the lab

Speeding up diagnostics to detect antibiotic resistance

Infectious disease diagnostics are notoriously slow. The gold standard for laboratory diagnosis of bacterial and fungal infection involves growing the pathogen from a clinical specimen – an overnight event, or even longer. The healthcare focus is on improving the use of antibiotics for better patient outcomes and reducing the environmental pressures that drive antibiotic resistance. To impact…

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News • DNA damage causes AML

Cancer chemotherapy side-effects on blood cell development

By analysing secondary acute myeloid leukaemias, researchers at the Institute for Research in Biomedicine (IRB) Barcelona have detected mutations caused by platinum-based chemotherapies in cells that were healthy at the time of treatment. Treatment with chemotherapies influences the development of blood cells, favouring clonal hematopoiesis from cells with pre-existing mutations. The study has…

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News • Patient response testing

New method predicts which cancer therapies work (and which don't)

A new technology that can study which therapies will work on patients with solid cancerous tumours has been developed by scientists at University College London (UCL). Researchers say the tool, which can rapidly test tumorous tissue against different treatments, such as chemotherapy, immunotherapy or radiotherapy, could be used by clinicians to pinpoint the best therapy for a particular patient.

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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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News • SARS CoV-2 B.1.621

WHO classifies Coronavirus "Mu" as new 'Variant of Interest'

The World Health Organization (WHO) has taken a closer look at coronavirus variant B.1.621. The strain, first encountered in January 2021 in Colombia, shows traits that could enable the virus to circumvent immune response to vaccination. As a result, the variant, named "Mu", has been classified as "Variant of Interest" (VOI). Despite its prominence in Colombian new infection,…

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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 • Potential for pan-variant therapies

SARS-CoV-2 might have a 'sugar coated' weak spot

Researchers identify two sugar-binding proteins that impede the viral entry of circulating SARS-CoV-2 variants. The team, spearheaded by researchers at IMBA – Institute of Molecular Biotechnology of the Austrian Academy of Sciences – may have found the “Achilles’ heel” of the virus, with potential for pan-variant therapeutic interventions. The findings are now published in the EMBO…

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News • Antisense therapy update

Huntington's disease: setback for study of promising agent

Roche announced the decision to discontinue dosing in the Phase III GENERATION HD1 study of tominersen (previously IONIS-HTTRx and RG6042) in manifest Huntington’s disease (HD). The decision was based on the results of a pre-planned review of the data from the Phase III study conducted by an unblinded Independent Data Monitoring Committee (iDMC). The iDMC made its recommendation based on the…

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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 • MSI tumors

Vaccination against hereditary colorectal cancer shows promise

Scientists from the German Cancer Research Center and Heidelberg University Hospital have for the first time been able to delay the development of hereditary colorectal cancer with a protective vaccination. Mice with a hereditary predisposition to colorectal cancer survived significantly longer after vaccination than unvaccinated animals. Combining the vaccination with an anti-inflammatory drug…

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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 • Tumour development research

New bladder cancer model could lead to better treatment

Uppsala University scientists have designed a new mouse model that facilitates study of factors contributing to the progression of human bladder cancer and of immune-system activation when the tumour is growing. Using this model, they have been able to study how proteins change before, while and after a tumour develops in the bladder wall. The study has now been published in the scientific…

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News • RAS protein mutation

New treatment approach targets cancer 'Death Star'

A new way to target a mutant protein which can cause the deadliest of cancers in humans has been uncovered by scientists at Leeds. The mutated form of the RAS protein has been referred to as the “Death Star” because of its ability to resist treatments and is found in 96% of pancreatic cancers and 54% of colorectal cancers. RAS is a protein important for health but in its mutated form it can…

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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 • Severe effects

How COVID-19 wreaks havoc on human lungs

Scientists at the U.S. Department of Energy's (DOE) Brookhaven National Laboratory have published the first detailed atomic-level model of the SARS-CoV-2 "envelope" protein bound to a human protein essential for maintaining the lining of the lungs.

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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 • Understanding myelination

Multiple sclerosis: Mini '3D brains' to speed up research

Tiny 3D models that mimic vital aspects of the human nervous system have been developed in a step that could accelerate drug research for neurological conditions such as multiple sclerosis (MS). The millimetre-wide models – created using stem cells from human skin samples – will be used to study myelin, an insulating substance that helps nerve cells communicate with each other. Researchers…

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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 • Biochemistry

Potential trigger of Crohn’s disease found

Potentially game-changing research led by McMaster University scientists may finally bring relief to millions of people worldwide living with Crohn’s disease. Investigator Brian Coombes said his team identified a strain of adherent-invasive E-coli (AIEC) that is strongly implicated in the condition and is often found in the intestines of people with Crohn’s disease. “If you examine the gut…

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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 Pleural Mesothelioma

AI to help fight asbestos-related cancer

International genomics research led by the University of Leicester has used artificial intelligence (AI) to study an aggressive form of cancer, which could improve patient outcomes. Mesothelioma is caused by breathing asbestos particles and most commonly occurs in the linings of the lungs or abdomen. Currently, only seven per cent of people survive five years after diagnosis, with a prognosis…

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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 • A much-needed update

New 'double antibody' delivers dual strike SARS-CoV-2 and its variants

The Institute for Research in Biomedicine (IRB) in Switzerland developed a second-generation ‘double antibody’ that protects from SARS-CoV-2, the virus causing Covid-19, and all its tested variants. It also prevents the virus from mutating to resist the therapy. Antibody-based immunotherapy was already shown to be effective against Covid-19 but faces two main obstacles: it needs to work…

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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 • Epidemilogical study shows

Covid variant B.1.1.7.: A lot more dangerous than the original form

The highly infectious variant of Covid-19 discovered in Kent, which swept across the UK last year before spreading worldwide, is between 30 and 100 per cent more deadly than previous strains, new analysis has shown. A pivotal study, by epidemiologists from the Universities of Exeter and Bristol, has shown that the SARS-CoV-2 variant, B.1.1.7, is associated with a significantly higher mortality…

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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 • 'Vaccelerate' cooperation

Building a Covid-19 vaccine network across Europe

The European Commission has launched a contingency plan to meet the challenge of the various mutations of the coronavirus. Karolinska Institutet and Karolinska University Hospital are contributing to a new network for the evaluation and testing of new vaccines. The network is called "Vaccelerate" and it will contribute both to the evaluation of ongoing and future vaccinations, as well…

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News • Peptide research

A 'fake handshake' to trick the coronavirus

Scientists have developed peptides that fit snugly into a groove on the SARS-CoV-2 Spike protein that it would normally use to access a host cell. These protein fragments effectively trick the virus into “shaking hands” with a replica rather than with the actual protein on a cell’s surface that lets the virus in. revious research has determined that the novel coronavirus binds to a receptor…

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News • Infection research

Mutations help bacteria resist antibiotic treatment

Bacteria have many ways to evade the antibiotics that we use against them. Each year, at least 2.8 million people in the United States develop an antibiotic-resistant infection, and more than 35,000 people die from such infections, according to the U.S. Centers for Disease Control. Most of the mutations known to confer resistance occur in the genes targeted by a particular antibiotic. Other…

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News • Detect lingering disease

Liquid biopsy for colorectal cancer could guide therapy for tumors

A new study from Washington University School of Medicine in St. Louis demonstrates that a liquid biopsy examining blood or urine can help gauge the effectiveness of therapy for colorectal cancer that has just begun to spread beyond the original tumor. Such a biopsy can detect lingering disease and could serve as a guide for deciding whether a patient should undergo further treatments due to some…

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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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Article • AI use in clinical diagnosis

Deep learning tool predicts tumour expression from whole slide images

A deep learning model to predict RNA-Seq expression of tumours from whole slide images was among the industry innovations outlined at the 7th Digital Pathology and AI Congress for Europe. Created by French-American start-up Owkin, the detail of how the company’s HE2RNA model provides virtual spatialization of gene expression was detailed to online delegates by senior translational scientist…

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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 • 'Nanobodies'

Small antibodies show promise against Covid-19

Researchers at Karolinska Institutet have developed, in collaboration with researchers in Germany and the U.S., new small antibodies, also known as nanobodies, which prevent the SARS-CoV-2 coronavirus from entering human cells. The research study, published in Science, shows that a combined nanobody had a particularly good effect – even if the virus mutated. According to the researchers, the…

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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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News • Lasts longer, causes more damage

Covid-19 pneumonia: not your typical garden-variety pneumonia

Bacteria or viruses like influenza that cause pneumonia can spread across large regions of the lung within hours. In the modern intensive care unit, these bacteria or viruses are usually controlled either by antibiotics or by the body’s immune system within the first few days of the illness. But in a study published in Nature, investigators at Northwestern Medicine show Covid-19 pneumonia is…

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News • Virion recreated

First computational model of entire SARS-CoV-2 virus

Researchers at the University of Chicago have created the first usable computational model of the entire virus responsible for Covid-19—and they are making this model widely available to help advance research during the pandemic. “If you can understand how a virus works, that’s the first step towards stopping it,” said Prof. Gregory Voth, whose team created the model published in…

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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 • Enzyme Linked Immunosorbent Assay

Startup develops breakthrough IgG antibody test for Covid-19

ZTA Biotech, a Budapest-based biotech startup, has developed a Covid-19 antibody (IgG) test using the ELISA protocol. This new detection method represents a great step forward in determining if patients have had a coronavirus infection and if they might still have immunity to the disease. Early results have proven 100% in specificity after testing 280 samples, and 100% sensitivity by testing 260…

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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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News • Brain rejuvenation

Drug reverses age-related mental decline within days

Just a few doses of an experimental drug can reverse age-related declines in memory and mental flexibility in mice, according to a new study by UC San Francisco scientists. The drug, called ISRIB, has already been shown in laboratory studies to restore memory function months after traumatic brain injury (TBI), reverse cognitive impairments in Down Syndrome, prevent noise-related hearing loss,…

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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 • Intratumoral B cells

Another side to cancer immunotherapy?

Scientists report on their detailed look at B cells' presence inside tumors. B cells represent the other major arm of the adaptive immune system, besides T cells, and could offer opportunities for new treatments against some kinds of cancers.

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News • Preclinical data

COVID-19 vaccine candidate designed via computer

An innovative nanoparticle vaccine candidate for the pandemic coronavirus produces virus-neutralizing antibodies in mice at levels ten-times greater than is seen in people who have recovered from COVID-19 infections. Designed by scientists at the University of Washington School of Medicine in Seattle, the vaccine candidate has been transferred to two companies for clinical development.

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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 • Electrostatic interactions

New research exposes weak spot in SARS-CoV-2

Northwestern University researchers have uncovered a new vulnerability in the novel coronavirus’ infamous spike protein — illuminating a relatively simple, potential treatment pathway. The spike protein contains the virus’ binding site, which adheres to host cells and enables the virus to enter and infect the body. Using nanometer-level simulations, the researchers discovered a positively…

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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 • Cell division

Researchers find protein that helps cancer cells to survive

In a new study, researchers from the University of Copenhagen have discovered two important functions of a protein called RTEL1 during cell division. The researchers hope that the new knowledge will help to find new cancer treatments. One of the body's most important processes is cell division, which occurs throughout life. Normal cells only have a limited number of divisions, while in cancer…

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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 • COVID-19 research

Clues to coronavirus’s vulnerability emerge from SARS antibody

An antibody recovered from a survivor of the SARS epidemic in the early 2000s has revealed a potential vulnerability of the new coronavirus at the root of COVID-19, according to a study from scientists at Scripps Research. The study, published in Science, is the first to map a human antibody’s interaction with the new coronavirus at near-atomic-scale resolution. Although the antibody was…

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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 • Microbiological big data analysis

Building a 'Microbiome Search Engine'

Big data makes big promises when it comes to providing insights into human behavior and health. The problem is how to harness the information it provides in an efficient manner. An international team of researchers has proposed a microbiome search-based method, via Microbiome Search Engine (MSE), to analyze the wealth of available health data to detect and diagnose human diseases. They published…

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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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News • RT-PCR for COVID-19

First of 3 diagnostic tests for SARS-CoV-2 coronavirus available

Biotechnology company bioMérieux, a world leader in the field of in vitro diagnostics, is announcing the forthcoming launch of 3 different tests to address the COVID-19 epidemic and to meet the different needs of physicians and health authorities in the fight against this emerging infectious disease. bioMérieux has finalized the development of the SARS-CoV-2 R-Gene test. This real-time PCR test…

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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 • Promising metabolite

Gut flora could hold the key for new diabetes treatments

An organic compound produced by the gut flora – the metabolite 4-Cresol – is considered to have protective effects against both type 1 and 2 diabetes, notably by stimulating the growth of the insulin-producing pancreatic beta cells. This is according to a new study led by Inserm researcher Dominique Gauguier at the Environmental Toxicology, Therapeutic Targets, Cell Signaling and Biomarkers…

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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 • "Immune escape"

Cancer camouflage: how our immune system is duped

T cells play a huge role in our immune system's fight against modified cells in the body that can develop into cancer. Phagocytes and B cells identify changes in these cells and activate the T cells, which then start a full-blown program of destruction. This functions well in many cases – unless the cancer cells mutate and develop a kind of camouflage that let them escape the immune system…

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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 • Tumour Matrisome Index (TMI)

Big data breakthrough in cancer diagnosis

A team of researchers from the National University of Singapore (NUS) has discovered a new personalised tool to detect cancer, predict patient survivability and how well a cancer patient would respond to immunotherapy. This tool is a specially-designed cancer 'scorecard' to be used with the standard blood test for cancer (also known as liquid biopsy). This 'scorecard', which the team termed as…

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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 • Multiple myeloma therapy

Finding a formula for blood cancer vaccine

Researchers at the Icahn School of Medicine at Mount Sinai have discovered a way to move precision immunotherapy forward by using genomics to inform immunotherapy for multiple myeloma, a blood cancer, according to a study published in Clinical Cancer Research, a journal of the American Association for Cancer Research, in December. This is the first study to experimentally determine which…

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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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