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Challenges of Diagnosing Rare Disorders

Amit Rakhit, MD, Chief Medical and Portfolio Officer of Ovid Therapeutics, discusses the challenges of diagnosing rare disorders in general, and Fragile X and Angelman syndromes specifically. Family physicians, pediatricians, and other primary health care professionals are on the front lines of patient care. These physicians play a critical role in the early identification and long-term management of patients with rare diseases. Families often look to physicians to be thoroughly informed about the rare and/or genetic disease with which they have been diagnosed. Patients living with rare diseases visit an average of 7.3 physicians before receiving an accurate diagnosis, according to a recent survey of patients, family members, physicians and allied health care professionals.