Researchers identify a repeat expansion in the GOLGA8A gene as a major genetic driver for a rare, early-onset form of frontotemporal dementia.

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

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

This year’s Rare Disease Day event Feb. 27 at the Jacobs School of Medicine and Biomedical Sciences focused on updates in research and diagnostics, and advancements in treatment.

The Food and Drug Administration has approved expanded use of leucovorin calcium tablets for treating cerebral folate ...

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 ...

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 ...

Researchers have identified a potential treatment strategy for Rett syndrome via alternative splicing modulation of the MECP2 gene.

Zevra Therapeutics, Inc. is rated a Buy, delivered robust FY25 results, with 350% revenue growth to $106.5M. Learn more about ZVRA stock here.

"The stories are so outrageous," Senator Ron Johnson said. "It just appears that they’re looking for excuses to say no." ...

The Food and Drug Administration (FDA) on Tuesday granted expanded approval to Wellcovorin for the ultra-rare disease cerebral folate deficiency (CFD) in both children and adults, the same ...

About five months after U.S. Department of Health and Human Services Secretary Robert F. Kennedy Jr. | About five months after U.S. Health Secretary Robert F. Kennedy Jr. touted leucovorin as “an ...