Cystic fibrosis is among the most common, known and studied genetic diseases. It affects over 100,000 people worldwide and ...

As the body ages, cells naturally accumulate dozens of genetic mutations each year. New research from Boston Children's Hospital, published in Cell, finds that the brain's resident immune cells, ...

For decades, the standard explanation for autoimmune diseases like rheumatoid arthritis has rested on two pillars: inherited ...

Researchers say a new AI system can identify disease-causing mutations and explain their biological effects, potentially ...

Parkinson's disease researchers say they have discovered a genetic mutation in a small protein that could produce new treatments for the debilitating brain disorder. Chinnapong - stock.adobe.com ...

Treatment with the investigational next-generation KRAS-G12C inhibitor elisrasib led to clinical benefit in patients with ...

On the surface, frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are very different neurodegenerative ...

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and, frequently, autism.

Neurologists have discovered a genetic mutation that may protect the brain from dementia. Francisco Lopera, a researcher at the University of Antioquia in Colombia, has spent almost forty years ...

At the recent American Academy of Neurology annual meeting, researchers presented findings on a Peruvian family with Alzheimer's disease carrying a likely pathogenic stop-gain SORL1 variant. In this ...

A new Nature study suggests DNA mutations in immune cells may drive autoimmune diseases by removing immune system brakes, ...

Only around two percent of the human genome codes for proteins, and while those proteins carry out many important functions of the cell, the rest of the genome cannot be ignored. However, for decades ...