The gene-editing technique known as CRISPR is promising to revolutionize medicine. Some researchers are trying to help make it available for people with very rare genetic disorders.
Multiplexed assays of variant effect are an increasingly important tool in genetic research and including more context specificity in their design would aid interpretation and discovery.
Alzheimer's disease is a debilitating condition that slowly robs people of their memory and cognitive abilities, affecting millions of people worldwide. Familial Alzheimer's disease (FAD), a rare ...
After Natalie Rex was diagnosed with Friedreich’s ataxia -- a rare genetic and usually fatal neurological disease -- her twin sister, Melanie, became her roommate and caregiver.
Alzheimer’s disease is a debilitating condition that slowly robs people of their memory and cognitive abilities, affecting millions of people worldwide. Familial Alzheimer’s disease (FAD), a rare ...