Mutation News and Research

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Introducing a blood-based test for minimally invasive detection of IDH1 mutant gliomas

Glioma represents the most common central nervous system cancer in adults. The current classification scheme uses molecular alterations, particularly IDH1.R132H, to stratify lesions into distinct prognostic groups.

30 Aug 2024

Study reveals the role of blood clotting in COVID-19

In a study that reshapes what we know about COVID-19 and its most perplexing symptoms, scientists have discovered that the blood coagulation protein fibrin causes the unusual clotting and inflammation that have become hallmarks of the disease, while also suppressing the body's ability to clear the virus.

29 Aug 2024

AI unveils secrets of protein stability

Researchers at the Center for Algorithmic and Robotized Synthesis within the Institute for Basic Science have taken a significant step forward in understanding the stability of proteins by leveraging the power of AI. The research team used AlphaFold2 to explore how mutations affect protein stability - a crucial factor in ensuring proteins function correctly and do not cause diseases like Alzheimer's.

29 Aug 2024

16 promising postdoctoral scientists awarded Damon Runyon Fellowships for cancer research

The Damon Runyon Cancer Research Foundation has named 16 new Damon Runyon Fellows, exceptional postdoctoral scientists conducting basic and translational cancer research in the laboratories of leading senior investigators.

28 Aug 2024

Hereditary cardiac amyloidosis more common in the UK than previously thought

More people in the UK are at risk of a hereditary form of cardiac amyloidosis, a potentially fatal heart condition, than previously thought, according to a new study led by researchers at UCL (University College London) and Queen Mary University of London.

28 Aug 2024

CDCA7 identified as key player in hemimethylation sensing

DNA methylation is a process in which a methyl group is attached to the cytosine base of the DNA molecule, and a major way that DNA is epigenetically marked.

28 Aug 2024

Study identifies genetic cause of severe seizures in children

Shortly after Kelly Cervantes' daughter Adelaide was born, she started having terrible seizures. Doctors were unable to give her a solution, or even a cause.

28 Aug 2024

Scientists discover how a gut insulin antagonist controls fat loss in C. elegans by modulating brain signals

Researchers have identified an endogenous insulin antagonist, INS-7, in Caenorhabditis elegans that modulates fat loss by inhibiting a gut-to-brain signaling pathway involving the neuropeptide FLP-7.

27 Aug 2024

Octavalent intranasal flu vaccine proves effective in neutralizing both existing and emerging strains

A new octavalent intranasal vaccine shows promising results in providing broad immunity against both seasonal and pre-pandemic influenza strains by eliciting strong mucosal and systemic immune responses in ferrets.

25 Aug 2024

Advances in sequencing uncover rare genetic variants in colorectal cancer

Colorectal cancer (CRC) presents a significant health challenge, especially with rare genetic variations complicating treatment.

23 Aug 2024

Mutation in SARS-CoV-2 spike protein enhances brain infection

Scientists have discovered a mutation in SARS-CoV-2, the virus that causes COVID-19, that plays a key role in its ability to infect the central nervous system.

23 Aug 2024

Defective ZNRF3 gene causes opposing brain sizes and potential tumor risk

A gene called ZNRF3, known to be involved in cancer, also messes with the mind. The human brain relies on two copies of this gene to build a right-sized brain. If one of the copies is defective, the brain will be either too small or too large - known as mirror effect -, leading to various neurological symptoms.

23 Aug 2024

AmoyDx® Pan Lung Cancer PCR Panel approved in Japan as a companion diagnostic for Haiyitan® tablets (gumarontinib)

Riken Genesis Co., Ltd., Amoy Diagnostics Co., Ltd., and Precision Medicine Asia Co., Ltd. today announced that the Japanese Ministry of Health, Labour and Welfare has approved the AmoyDx® Pan Lung Cancer PCR Panel

From Amoy Diagnostics 23 Aug 2024

New analytical method for identifying cancer cell targets

What are the characteristics of a cancer cell that are recognized by the immune system? Knowledge of the potential target structures for the immune cells is a basic prerequisite for the development of personalized cancer immunotherapies. Scientists from the German Cancer Research Center (DKFZ) and the NCT Heidelberg are publishing a highly sensitive method based on mass spectroscopy to identify such tumor-specific "neoepitopes". The analytical method is designed to detect these low-abundance protein fragments and requires minimal amounts of sample material.

23 Aug 2024

Olaparib effective against BRCA2-mutated prostate cancer

The anti-cancer drug olaparib may be effective in treating biochemically recurrent prostate cancer without accompanying hormone therapy for men who have mutations in genes such as BRCA2, according to results of a phase II clinical trial of 51 patients conducted at the Johns Hopkins Kimmel Cancer Center and three other sites.

23 Aug 2024

Experts release revised lung cancer testing guidelines

The College of American Pathologists (CAP), the International Association for the Study of Lung Cancer (IASLC), and the Association for Molecular Pathology (AMP) announced today the open comment period for the revised 2018 evidence-based guideline, "Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors."

23 Aug 2024

Study reveals RAD51D variant enrichment in Chinese ovarian cancer patients

Researchers from BGI Genomics and Fudan University published new findings on OV among Chinese patients in JCO Global Oncology.

22 Aug 2024

The critical role of PGK1 in Parkinson's disease

An enzyme called PGK1 has an unexpectedly critical role in the production of chemical energy in brain cells, according to a preclinical study led by researchers at Weill Cornell Medicine. The investigators found that boosting its activity may help the brain resist the energy deficits that can lead to Parkinson's disease.

21 Aug 2024

Targeted therapy slows endometrial cancer growth in mice models

There may be a way to slow the growth of endometrial cancer through targeted cancer cell therapy, according to new research from the University of Missouri School of Medicine.

21 Aug 2024

Expanding the TTN mutation spectrum for dilated cardiomyopathy diagnosis

Announcing a new article publication for Cardiovascular Innovations and Applications journal. Dilated cardiomyopathy (DCM), a severe heart disease, is the leading cause of heart failure and sudden cardiac death worldwide.

19 Aug 2024