A Denali Therapeutics drug for the rare enzyme deficiency Hunter syndrome is still in pivotal testing, but the company has guidance from the FDA on a pathway to get this therapy to the market sooner.

Living cells contain a world of complex parts, which are constantly in motion. Many functions of these parts are still not fully understood, but likely harbor answers to many of our questions about ...

Scientists at the Francis Crick Institute have found a new treatment target for CDKL5 deficiency disorder (CDD), one of the most common types of genetic epilepsy. CDD causes seizures and impaired ...

The journey of rare disease patients and their families can be a long one marked by misdiagnoses, and so it is for those who have the ultra-rare disorder with the abbreviated name PMM2-CDG. This ...

Glutaric aciduria type 1 (GA1) is an inherited metabolic disorder. It results from an enzyme deficiency that prevents the body from breaking down some amino acids. This causes a buildup of toxic ...