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

Using CRISPR, Hebrew University of Jerusalem team finds PEDS1 enzyme linked to reduced brain size; study maps 331 genes ...

Whether or not a person becomes seriously ill with COVID-19 depends, among other things, on genetic factors. With this in mind, researchers from the University Hospital Bonn (UKB) and the University ...

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 ...

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 ...

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

Researchers have found that splitting the gene editor used in traditional CRISPR technology creates a more precise tool that can be switched on and off, with significantly less chance of causing ...

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

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 ...

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 - ...