"Beast Games" winner Jeff Allen hopes finding a cure for his son's rare disease will unlock new treatments for other brain ...

An El Paso mother was in Washington, D.C. to attend a Senate hearing on Thursday, Feb. 26 and to raise awareness about a rare ...

On World Rare Disease Day, we take a look at Pompe disease - a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen buildup in muscles. It results in progressive muscle ...

Cure Rare Disease (CRD), a non-profit biotechnology organization, today announced a landmark partnership with the LGMD2L Foundation. This collaboration is backed by a generous commitment of $7.65 ...

Experts call for early diagnosis, prophylaxis in hemophilia, improved MS policy frameworks, genomic testing access and ...

As a toddler, Lucas was diagnosed with Creatine Transporter Deficiency, or CTD, a rare genetic mutation that blocks the ...

Early diagnosis of rare diseases in children can significantly improve treatment outcomes and quality of life. Learn symptoms, challenges, and why early detection is crucial for managing pediatric ...

Researchers at the University of Basel have developed a gene therapy that could potentially treat a rare and currently fatal ...

Rare Disease Day is held on the last day of February to raise awareness for rare diseases and address drug development ...

As policies promise support and courts intervene, thousands of rare disease patients remain trapped between soaring drug ...

Among the rare diseases identified in the 11 persons are Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), Noonan syndrome and Hunter syndrome — both genetic conditions ...

Several new guidance documents issued by the FDA are poised to significantly impact the rare disease development landscape.