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"Pathogenic RET Variants Occur at Higher Prevalence Than Previously Recognized" - Marie Benz

  • Medical Research
  • New York, NY
  • (March 24, 2019)

Multiple Endocrine Neoplasia Syndrome Type 2 is an inherited endocrine disorder characterized by the development of pheochromocytoma, medullary thyroid carcinoma, and parathyroid tumors. It occurs due to activating missense variants in the RET gene. Emily Gallagher, MD, assistant professor of medicine, endocrinology, diabetes and bone disease at the Icahn School of Medicine at Mount Sinai, said "The results from this study in the multi-ethnic BioMe Biobank reveal a higher prevalence of pathogenic RET variants than previously recognized." The role of genomics in medicine is expanding, and genomic information will soon be integrated more broadly into clinical care. A major goal of Noura Abul-Husn, MD, PhD, Clinical Director of the Center for Genomic Health at the Icahn School of Medicine at Mount Sinai, is to train residents and fellows, such as Heidi Guzman, MD, an endocrinology fellow at the Icahn School of Medicine at Mount Sinai, and lead author on this abstract, in genomic screening and the integration of genomic medicine into clinical practice.

— Emily Gallagher, MD, Assistant Professor, Medicine, Endocrinology, Diabetes and Bone Disease, Icahn School of Medicine at Mount Sinai

— Noura Abul-Husn, MD, PhD, Senior Faculty, Genetics and Genomics, Medicine, General Internal Medicine, Clinical Director, The Center for Genomic Health, Icahn School of Medicine at Mount Sinai

— Heidi Guzman, MD, Endocrinology Fellow, Icahn School of Medicine at Mount Sinai

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