natural history

What Is Genetic Counseling and Why Is It Important in Pompe Disease?

If you, your partner, or anyone else in the family has Pompe disease, you may wonder whether the disorder also will affect your future children. Genetic counseling can help you calculate the risk and help you with genetic testing and family planning. What do genetic counselors do? Genetic…

FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…