Rare and Genetic Disease Network
Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells.
Other Names: Zika fever; Zika virus disease Zika virus infection is spread to people primarily through the bite of an infected mosquito. Zika virus can also be spread from a pregnant mother to her child and through sexual contact with an affected partner. Cases of...
Daniel de Boer, Founder and CEO of ProQR, discussuses Epidermolysis bullosa (EB), a group of genetic skin diseases that cause the skin to blister and erode very easily. In people with EB, blisters form in response to minor injuries or friction, such as rubbing or scratching.
Yuval Cohen, PhD, CEO of Corbus discusses the role of inflammation in auto-immune diseases.
Chris Garabedian discusses some of Xontogeny’s recent activity. Xontogeny is a biotech aggregator which supports the accelerated development of life science technologies in the pursuit of helping patients with serious diseases.
Rob Neville of Savara Pharmaceuticals discusses how his company engages advocacy groups in the disease they have clinical programs in, including PAP and Cystic Fibrosis.
Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels.
Seth Rotberg, 27, was diagnosed with Huntington’s Disease at age 20 and has since become an advocate for rare disease patients. He tells us about his experience dealing with his own diagnosis, and shares his advice for anyone dealing with a new disease diagnosis,...
Albireo Pharma announced that the first patient has been enrolled, a Phase 3 clinical trial (called PEDFIC-1) for patients with progressive familial intrahepatic cholestasis (PFIC)
WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability.
Pulmonary vein stenosis (PVS) is a rare disease in which abnormal cells build up inside the veins responsible for carrying oxygen-rich blood from the lungs to the heart.
Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.