Impacts of genetic analysis and patient advocacy for extremely rare diseases

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Marshall L. Summar, MD, Chief of the Division of Genetics and Metabolism at Children’s National Medical Center in Washington, DC, talked to Medscape about the role of patients and families, advocacy groups, and patient registries in furthering our understanding of pathophysiology and finding innovative treatments for rare disease.

Summar: Patient registries are one of the most important things we can do in this field. With more than 7000 different diseases, we simply don’t know enough.

There’s an old saying: “Know what you know, and know what you don’t know.” With these rare diseases, we don’t even know what we don’t know. The way to find that out is to develop these longitudinal registries (also known as “natural history studies”).

Read the full, original interview: A Golden Age for Rare Diseases

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