But since she was an infant, she and her family have had to fight for those bits of normalcy as they navigate the realities ...

After Natalie Rex was diagnosed with Friedreich’s ataxia -- a rare genetic and usually fatal neurological disease -- her twin ...

Studying patients with PD-1 or PD-L1 deficiency may help inform new approaches to fine-tuning immunotherapies to maximise ...

The gene-editing technique known as CRISPR is promising to revolutionize medicine. Some researchers are trying to help make it available for people with very rare genetic disorders.

"The grief spiral and the odyssey of trying to figure out what the problem is takes a really big toll on families." Baton ...

The Philippine Health Insurance Corp. (PhilHealth) will expand its health-care packages before the end of the year to cover ...

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized primarily by the formation of heterotopic ...

Multiplexed assays of variant effect are an increasingly important tool in genetic research and including more context specificity in their design would aid interpretation and discovery.

Mitochondrial diseases, often stemming from complex genetic factors, impact the mitochondria's energy production. Japanese ...

It’s one of the great promises of genomic medicine – all children born with a rare disease will in time have their genetic ...

The Delhi high court has directed the Centre and the Delhi government to file comprehensive reports on the availability and ...

Arrowhead has entered a worldwide licensing and partnership agreement with Sarepta Therapeutics for rare genetic disease ...