Denali Therapeutics solved a major challenge in Hunter syndrome treatment. Now it's ready to take its technology further.

To protect this child from the same genetic disease that killed two older siblings, treating her as soon as she was born might only work so well, the doctors knew. So they dialed back the therapeutic ...

A Chiesi Farmaceutici drug for a rare enzyme deficiency is now approved by the FDA, making it the first U.S. treatment for a disorder that leads to a range of cognitive and muscle problems. The ...

A drug developed by partners Protalix BioTherapeutics and Chiesi Group has won FDA approval, a regulatory decision that follows the product’s European approval last week, introducing new competition ...

If approved, UX111 will be the first approved therapy for the treatment of Sanfilippo syndrome Type A, a rare disease affecting young children ...

Glycogen storage disease type III (GSD III; McKusick, 232,400) is an autosomal recessive disease caused by the deficiency of glycogen-debranching enzyme (amylo-1,6-glucosidase, AGL). AGL contains two ...

Gaucher disease is a rare genetic disorder that causes the buildup of fatty substances in certain organs. Type 1 is the most common type of Gaucher disease, but it’s the least severe and has the most ...

Below are diseases that are often screened for in Jewish couples who are planning to have children because of an elevated risk of carrying a recessive mutation. Researchers so far have identified many ...