New method reveals how mutations drive transthyretin amyloidosis and guides precision drug design

An international research team reveals new molecular mechanisms associated with pathogenic mutations in the protein ...
eLife

Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach

This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...
Medical Xpress

New mutation hotspot discovered in human genome

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we ...
news.ucsc

New AI tool detects hidden cancer mutations

Every cancer carries a unique genetic fingerprint: variations in DNA known as “somatic variants” that occur in tumor DNA but are absent from the patient’s healthy cells. While some cancers may also ...
New Scientist

Selfish sperm see older fathers pass on more disease-causing mutations

The risk of older fathers passing on disease-causing mutations to their children is higher than we thought. Genome sequencing has revealed that among men in their early thirties, around 1 in 50 sperm ...
Newsweek

This Human Mutation May Explain Why We Get More Cancer Than Chimps

A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...
ascopubs.org

AlphaMissense for Identifying Pathogenic Missense Mutations in DNA Damage Repair Genes in Cancer

Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...
CNN

Sperm donor with rare genetic mutation fathered 67 children. Ten now have cancer, prompting calls for reform

The sperm of a man carrying a rare genetic mutation linked to cancer was used to conceive scores of children across Europe, prompting calls for greater regulation and a limit on the number of births ...
Live Science

Rare genetic mutation lets some people thrive on just 4 hours of shut-eye

A newly identified mutation helps super-sleepers get by on just four to six hours of shut-eye per night, while the rest of us need around eight hours. Researchers described the SIK3-N783Y mutation in ...
C&EN

Machine Learning and Structural Dynamics-Based Approach to Reveal Molecular Mechanism of PTEN Missense Mutations Shared by Cancer and Autism Spectrum Disorder

MOE Key Laboratory of Geriatric Diseases and Immunology, Suzhou Key Laboratory of Pathogen Bioscience and Anti-infective Medicine, Department of Bioinformatics and Computational Biology, School of ...
The New York Times

Mutated DNA Restored to Normal in Gene Therapy Advance

The small study in patients with a rare disorder that causes liver and lung damage showed the potential for precisely targeted infusions. By Gina Kolata Researchers have corrected a disease-causing ...