COMMAD is a syndrome which presents, ocular holes, dense bones, small eyes, large head, albinism, and deafness. A rare example of a disease passed on by parents who do not exhibit the condition. Two children were identified with two different recessive mutations.
123Genetix (www.123genetix.com) is developing a big data/deep learning solution to assist researchers: Develop new hypotheses; Design and run experimental simulations to test those hypotheses; Write better grants; and, Discover potential biomarkers.
PTC Therapeutics (NASDAQ: PTCT) is a global biopharmaceutical company focused on the discovery, development, and commercialization of novel medicines, released positive preliminary results for their spinal muscular atrophy (SMA) treatment.
When the Bragg family learned their daughter, Clara had GM1, a rare Lysosomal Storage Disease they, like many parents with children with rare diseases refused to accept terrible prognosis. This is their story.
Research carried out on a Niemann-Pick type C1 (NPC1) treatment can lead to a new generation of potential therapies for NPC1 and other similar disorders, as well as neurodegenerative diseases such as Parkinson’s and Alzheimer’s diseases.
Uplifting Athletes, a nonprofit organization, aimed at inspiring hope for the rare disease community through sport, has a national network of chapters run by student-athletes. It was founded by former Penn State football player Scott Shirley in 2003 after his father wa...
Vertex is a global biotechnical company that focuses on developing and commercializing medicines to aid people with serious diseases to lead better lives. Vertex launched the “All in for CF” scholarship program to help people with cystic fibrosis and their immediate fa...