Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...

GeneDx announced a record-setting year for its research programs, reinforcing its position as the global leader in rare ...

The decision-making body of the World Health Organization (WHO) has adopted a resolution to establish a global framework to support the diagnosis and management of rare diseases and promote research ...

Rare diseases are defined as conditions affecting fewer than 200,000 people in the US or less than 1 in 2,000 in Europe. 1-2 While each disease is individually rare, collectively, they represent a ...

Tiffany Fransen, diagnosed with Friedreich's ataxia, faces challenges from this rare disease. The genetic disorder affects ...

Whole genome sequencing (WGS) is not necessarily a solution for someone with a rare, monogenic disease. Indeed, more than half of families with suspected rare monogenic diseases do not have an answer ...

BioMarin Pharmaceutical said on Friday it would acquire Amicus Therapeutics for about $4.8 billion, in the drugmaker's second ...

Kirstie and Eric Austin's daughter is living with one of the rarest fatal diseases in the world. In 2021, Emma was rushed to the hospital after having a seizure. Genetic testing determined she has ...

When his infant son was diagnosed with a rare disease, a Canadian father was dismayed to discover there was no treatment or cure. So he set out to make one himself. Terry Pirovolakis, an IT director ...