Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

Scientists have identified a genetic mutation in a gene called SHLP2, which encodes for a microprotein in mitochondria, and can reduce a carrier's likelihood of developing Parkinson's disease by 50 ...

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

Is Obesity Genetic or Environmental? Get All the Details This article was reviewed by Lynn Marie Morski, MD, JD. Key ...

A research team at the University of California San Diego has discovered a novel and promising method of treating arrhythmogenic cardiomyopathy (ACM), a rare inherited heart disease that can strike ...

Sickle cell diseases arises from hemoglobin protein mutations. The mutation causes red blood cells to form a sickle shape rather than a round one. One study suggests that this mutation could be ...

To continue reading this content, please enable JavaScript in your browser settings and refresh this page. Genetic changes or mutations can cause hereditary kidney ...

Tobacco smoking is linked to specific genetic mutations in MDS, affecting chromatin modification and RNA splicing pathways. A dose-response relationship exists, with higher smoking intensity ...

Fourteen million people worldwide suffer from enlarged hearts, or hypertrophic cardiomyopathy (HCM), a genetic disease that thickens the heart's walls, making it harder for the organ to pump blood - ...

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 ...