Medically reviewed by Brigid Dwyer, MD Key Takeaways Huntington’s disease is a genetic condition that is inherited in an ...

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

(SALT LAKE CITY)--A gene mutation associated with a rare sleep disorder surprisingly also contributes to debilitating migraines, a new study led by University of Utah researchers shows. The discovery ...

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 ...

Mutations in the tumor suppressor TP53 are a common cause of cancer, making the altered protein an attractive target for ...

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

Australian researchers say they have identified a gene mutation that causes the skin disease psoriasis. A chronic inflammatory condition, psoriasis causes red, scaly, itchy patches on the skin. Some ...

Researchers from the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau) and the Memory Unit of the Sant Pau Hospital, led by neurologist ...

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

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, ...