"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

GENA highlights how AI and genomic intelligence transform rare disease identification, speeding diagnosis and improving ...

Psychiatric disorders can share common genetic influences, which means parts of DNA can be at the root of more than one mental condition, new research has found. The study, led by researchers at Texas ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

Joshua Resnikoff explains why health insurance isn’t always beneficial to families suffering from genetic diseases and outlines how earlier intervention could realign accountability and care ...

With a shared purpose, we can realize the true promise of CRISPR and improve healthcare, providing hope to more patients with ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

About 1 in 4 people suffer from an anxiety disorder at some point in their lives. These include panic disorder with sudden, severe anxiety attacks; generalized anxiety disorder, in which sufferers ...

Faced with a life-threatening metabolic disease, KJ’s doctors at Children’s Hospital of Philadelphia sprinted to create a ...

Hypermobile Ehlers–Danlos syndrome (hEDS) is one of the most common heritable connective tissue disorders. Early estimates have reported that this genetic disorder affects at least one in 5,000 ...

Despite widespread misconceptions, eating disorders aren’t a choice, they’re serious, potentially life-threatening conditions. While social and environmental factors do influence someone’s risk of ...

HOSPITAL staff have been told by officials to stop discouraging first-cousin marriages despite the increased risk of birth ...