Medically reviewed by Archana Sharma, DO Key Takeaways Mutations in the BRCA1 and BRCA2 genes are linked to triple-negative ...

CONNECTICUT — Close gatherings over the Thanksgiving holiday could cause an uptick in emergency room visits in Connecticut due to a trio of respiratory illnesses that typically rise this time of year, ...

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause ...

The most common cause of inherited prion diseases is the E200K mutation of the prion protein (PrP). It is often thought that this mutation causes disease by making PrP more susceptible to misfolding ...

Sickle cell disease is a hereditary condition, which means a person inherits it from their biological parents. The condition occurs when a person inherits two copies of the hemoglobin beta (HBB) gene ...

UCSF Benioff Children’s Hospital Oakland is enrolling patients in an innovative clinical trial that seeks to cure sickle cell disease. The trial is the first in the U.S. to apply non-viral CRISPR-Cas9 ...

The outlook for hATTR-PN can vary depending on the genetic mutation involved and how the condition first presents. Newer treatments are helping improve outcomes. hATTR is a rare, hereditary disease. A ...

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare congenital condition that causes the body to grow a second skeleton, rendering patients immobile. When you purchase through links on ...

Putting the brakes on an enzyme might rescue neurons that are dying due to a type of Parkinson's disease that's caused by a single genetic mutation, according to a new Stanford Medicine-led study ...