An international research team reveals new molecular mechanisms associated with pathogenic mutations in the protein ...

Amyotrophic lateral sclerosis (ALS) is a progressive neurological condition that eventually results in the loss of the ability to walk, talk, and swallow. In most cases, the cause of ALS is unknown.

Gene therapy has the potential to dramatically benefit patients with genetic blood disorders, but a small study on participants in a clinical trial for sickle cell disease suggests that a key process ...

Although the genetic cause of many diseases have been identified, it’s estimated that as many as 70% of patients with a rare disorder do not know what causes their disease. Millions of people live ...

Gregor Mendel discovered fundamental rules of genetics by raising pea plants. He realized that hidden factors — we now know them to be genes — were passed down from parents to offspring. It wasn’t ...

Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

Researchers from Radboud university medical center and University of Basel have discovered new genetic causes of inherited ...

The prothrombin gene mutation increases your risk of severe blood clots. Medications, regular checkups, and healthy lifestyle habits can help reduce this risk. The prothrombin gene plays a crucial ...