March 24, 2019
MedicalResearch.com Interview with:
Emily J. Gallagher, MDAssistant Professor of MedicineEndocrinology, Diabetes and Bone DiseaseIcahn School of Medicine at Mount Sinai
Emily J. Gallagher, MD
Assistant Professor of Medicine
Endocrinology, Diabetes and Bone Disease
Icahn School of Medicine at Mount Sinai
MedicalResearch.com: What is the background for this study?
Response: Multiple Endocrine Neoplasia Syndrome Type 2 (MEN2) is an inherited endocrine disorder characterized by the development of pheochromocytoma, medullary thyroid carcinoma (MTC) and parathyroid tumors. It occurs due to activating missense variants in the RET gene.
The estimated prevalence of MEN2 is 1 per 30,000 in the general population. Through a collaboration between The Center for Genomic Health, the Charles Bronfman Institute for Personalized Medicine, and the Division of Endocrinology at Mount Sinai, our aim was to investigate the prevalence and clinical manifestations of pathogenic RET variants in the multi-ethnic BioMe Biobank.
The BioMe Biobank is an electronic health record-linked biobank with exome sequencing data available for more than 30,000 patients recruited across The Mount Sinai Health System. (…)