People typically die from progressive supranuclear palsy within 7 to 10 years. There is currently no specialized treatment or effective screening for this neurodegenerative disease.

Sickle cell disease—the subject of a new Seminar in The Lancet—is one of the most prevalent and fastest-growing genetic disorders worldwide. Although its true prevalence is difficult to determine ...

Florida state Rep. Adam Anderson championed the Sunshine Genetics Act, the first state-backed genetic disease screening program in the nation. Anderson's son, Drew, died in 2019 from Tay-Sachs disease ...

A sweeping genetic analysis reveals when obesity is the common thread linking chronic diseases, and when other biology is to blame. Study: Genetics identifies obesity as a shared risk factor for ...

A chubby-cheeked baby called KJ made medical history last year. Faced with a life-threatening metabolic disease, KJ’s doctors at Children’s Hospital of Philadelphia sprinted to create a personalized ...

Mayo Clinic researchers have developed a promising gene-editing therapy that directly corrects a genetic mutation responsible for autosomal dominant polycystic kidney disease (ADPKD), the most common ...

A team led by researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital has uncovered a chain of events that connects genetic ...

Investigations of the genetic basis of coronary artery disease have led to advances in mechanistic insights, therapeutics, prevention, and risk prediction. Indeed, most contemporary medicines for ...

Wave Life Sciences has the fate of its lead RNA editing candidate back in its own hands. Partner GSK has decided not to take over development of WVE-006, an experimental oligonucleotide for alpha-1 ...

These days, it can seem as though AI and deep learning exist solely for the advancement of chatbots, but the techniques represent some of the most versatile problem-solving methods ever created. That ...

VIENNA, AUSTRIA—According to a statement released by the University of Vienna, an international team of researchers has identified a rare genetic condition in the remains of a mother and daughter who ...

For decades, scientists have theorized that two genetic defects have the potential to essentially “cancel each other out,” restoring normal protein function in the process. A new study confirms this ...