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

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development, providing new insights ...

An affordable new BRCA gene test has hit the market, but who should take it? — -- A new genetic testing kit that hits the market today is the most affordable, and arguably one of the simplest, ...

Autism spectrum disorder, also known simply as autism or ASD, is a developmental disorder that can vary widely from one patient to another. It can affect how people behave, socialize, or communicate ...

This photo provided by Emily’s Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emily’s Entourage via AP) Emily ...