A novel treatment for Leber's Hereditary Optic Neuropathy (LHON), a rare genetic disease that can lead to sudden loss of ...

GeneDx CEO Katherine Stueland explains how her company screens babies’ DNA for mutations that cause thousands of treatable ...

Mom unable to get treatment for one of two boys with rare genetic disorder gets life-changing update: ‘Don’t give up’ - ...

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 ...

Exclusive: Alison Joseph's sons Noah and Hunter both have Duchenne muscular dystrophy. She tells Rhian Lubin the ...

The Washington State Chapter of the Huntington’s Disease Society of America (HDSA) will host the Team Hope Walk in Liberty Lake on Saturday, October 4 at ...

With fewer than 600 cases worldwide, this skin disorder still sparks fear and stigma — but a dermatologist helps separate ...

An international team of researchers led by Icahn School of Medicine at Mount Sinai and the University of Copenhagen in ...

Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare condition associated with stroke, aortic dissection ...

A family in Elizabethtown has issued a personal plea for help for their young son. 12-year-old Isaiah Martin was born with a ...