In the Genetic Disease Program, each laboratory is focused on understanding and treating rare childhood disorders. Results have already been translated to patient therapies and researchers are working to discover new ones.
How our research helps improve health
Researchers in this program are developing new therapies to conquer diseases that primarily affect children, such as type 1 diabetes, congenital disorders of glycosylation, hypophosphatasia, and multiple hereditary exostoses. For example, one laboratory helped develop ENB-0040, an enzyme replacement therapy currently in clinical trials to test its effectiveness in treating hypophosphatasia, a rare inherited bone disorder similar to rickets. ENB-0040 is currently the only treatment option for the disease.