Episode 18 — Connecting the dots in the network of rare

20/06/2019 34 min
Episode 18 — Connecting the dots in the network of rare

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Episode Synopsis

In this episode recorded at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting, hear from 2 experts in the field of genetics. First, Dr. George Diaz discusses his role as a medical geneticist and pediatrician, the value of connecting families affected by rare diseases, and the impact technological advancements have made in his field. Next, Dr. Katy Phelan shares highlights of her career as a laboratory geneticist—including her discovery of a rare deletion syndrome. She explains why when patients connect, it helps their families and improves her research and understanding of the disease.

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