Yentli Soto Albrecht, who is a genetic carrier of ALS, is working on research at Penn that could one day prove life-saving.

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Researchers at VIB and Antwerp University have identified a major genetic risk factor for a rare form of frontotemporal ...

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

Nick Jonas' neighbour Maya Kibbel recently died of Wilson's disease at the age of 30. The disease is a rare genetic disorder where copper gets accumulated in the body, affecting different organs.

Nick Jonas is mourning the loss of his childhood friend and “sister” Maya Kibbel, who died at the age of 30 after battling ...

Sildenafil—an active ingredient also marketed under the name of Viagra—improves symptoms in patients with Leigh syndrome. This has now been reported in the journal Cell by researchers at ...

As Malaysia commemorates National Rare Disease Day and marks the launch of the National Policy for Rare Diseases, long-term, ...

Sildenafil – an active ingredient also marketed under the name of Viagra – improves symptoms in patients with Leigh syndrome. This has now been reported in the Cell* journal by researchers at Charité ...

A new federal proposal aimed at speeding approval of gene therapies for ultra-rare diseases could offer renewed hope to North Texans like Kasey and ...

My journey has been a long one. I am a paediatric immunologist and principal investigator of a PID research laboratory, and ...