Mutation-specific defects in neurological disorders mapped, pointing toward personalized therapies

Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...

Map of autism mutations shows diverse genes converge on shared brain pathways

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism ...
EurekAlert!

Molecular testing of FLT3 mutations in hematolymphoid malignancies in the era of next-generation sequencing

The illustration of protein structure (domains) on the left side, and corresponding exons in the FLT3 gene are displayed on the right side. FMS-like tyrosine kinase 3 (FLT3) mutations represent some ...

Scientists report new immune insights and targets into LRRK2 mutations in Parkinson's disease

Parkinson's disease (PD) is a debilitating and progressive neurodegenerative disorder caused by the loss of dopamine-producing neurons in the substantia nigra, a brain region essential for motor ...
GEN - Genetic Engineering and Biotechnology News

Brain Organoids Map How Distinct Autism Mutations Converge in Early Development

A new study published in Nature in the paper, “Developmental convergence and divergence in human stem cell models of autism,” provides new insights by demonstrating that while different mutations ...
News-Medical.Net on MSN

Atypical mutation offers clues to personalized pancreatic cancer treatment

A new study led by Aaron Hobbs, Ph.D., and Rachel Burge, Ph.D., at MUSC Hollings Cancer Center, reveals why a specific gene ...
The Manila Times

Ageing, smoking, oral bacteria and genetic mutations linked to higher stomach cancer risk

Duke-NUS and NUHS scientists uncover a complex web of genetic, age-related and microbial factors that increase the risk of stomach cancer.Age-related blood cell mutations may trigger early changes in ...
News-Medical.Net on MSN

Single-cell technique maps pre-malignant gene mutations in solid tissues

A new single-cell profiling technique has mapped pre-malignant gene mutations and their effects in solid tissues for the first time, in a study led by investigators at Weill Cornell Medicine and the ...