"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 ...

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

Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life.

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 ...

Inherited hyperbilirubinemia, encompassing Gilbert syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, and Rotor ...

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 ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

A local girl with a rare genetic disorder and her family claim someone is impersonating her on social media.

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