Jennifer Ibrahim, MD, Head of North America Medical Affairs, Rare Disease at Sanofi Genzyme, discusses the geneticist’s role in diagnosing and treating rare genetic diseases.
As Dr. Ibrahim explains, often rare diseases present with a number of symptoms, many of which are seen in more common disorders. On top of this, most general practitioners are not trained on how to diagnose rare diseases. This is often what makes the diagnostic journey for rare disease patients so long. The geneticist, however, is usually trained to spot patterns of symptoms which can speed up the diagnosing process.
Additionally, according to Dr. Ibrahim, some geneticists facilitate multi-disciplinary teams of specialists needed to treat specific disorders.
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