This article was featured in New York’s One Great Story newsletter. Sign up here. The first nine days of Jorie Kraus’s life followed a pattern: problem, solution. Problem, solution. Problem: Jorie was ...
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 ...
WOODBRIDGE, Conn.--(BUSINESS WIRE)--Cure Rare Disease (CRD), a clinical-stage nonprofit biotechnology company developing genetic medicines for ultra-rare and rare conditions, today announced that the ...
Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes Ambry Genetics’ Patient for Life program is supported by a dedicated team of scientists who ...
The global pharmaceutical industry is make huge investments in treatments for rare diseases, which once drew little interest from major drugmakers. A look at some key statistics on rare diseases: ...
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 ...
A new artificial intelligence system called DeepRare has beaten experienced rare-disease physicians at their own specialty, correctly identifying diagnoses more often than doctors in a direct ...
One in 10 Americans suffers from a rare disease, a statistic that casts the label “rare” in new light. It also drives the work of the National Organization for Rare Disorders, a coalition of patient ...
Rare Disease Day raises awareness for the thousands of rare diseases affecting millions. Advancements in technology, such as gene therapy, offer hope for potential cures for rare diseases in the ...