Genome-First Approaches to Identify Disease Risk in Diverse Populations

Noura S. Abul-Husn, MD, PhD is Associate Professor of Medicine and Genetics, founding Chief of the Division of Genomic Medicine in the Department of Medicine, and Clinical Director of the Institute for Genomic Health at the Icahn School of Medicine at Mount Sinai.

Dr. Abul-Husn is a physician scientist working to uncover the clinical impact of human genetic variation in diverse populations and drive the equitable implementation of genomic medicine. Her scientific contributions include pioneering genome-first approaches in electronic health record-linked biobanks to provide novel clinical insights and inform therapeutic discovery. Her work has been published in leading journals, including Science, Cell, and the New England Journal of Medicine. Dr. Abul-Husn directs a genomic screening program tailored to the ancestrally diverse BioMe Biobank in New York City. As a principal investigator in the eMERGE (electronic Medical Records and Genomics) Network, she is leading efforts to integrate polygenic risk information into clinical care for diverse populations. Dr. Abul-Husn directs a new Genomic Health Clinic to provide the infrastructure for emerging genomic applications, and has initiated a Genomic Medicine Track for Internal Medicine residents to expand genomics knowledge across specialties.

Dr. Abul-Husn has a BSc Honors in Life Sciences and MSc in Pharmacology from Queen’s University in Canada. She completed her MD, PhD, and Internal Medicine/Medical Genetics residency at Mount Sinai in New York, and was elected to the Alpha Omega Alpha Medical Honor Society. She is board certified in Internal Medicine and Medical Genetics. Dr. Abul-Husn previously served as director of Translational Genetics at the Regeneron Genetics Center, during which time she received a 40 under 40 Rising Star Award. She is the recipient of the 2021 Dr. Michael S. Watson Genetic & Genomic Medicine Innovation Award from the ACMG Foundation for Genetic and Genomic Medicine.

Learning Objectives:

  1. Describe how research biobanks embedded in health systems can drive genomic medicine
  2. Explain the utility of genomic data in identifying patients at high risk for disease
  3. Develop strategies to implement genomic medicine in diverse populations


  • Noura S. Abul-Husn, MD, PhD

This seminar was delivered as a Pediatric Grand Rounds Lecture at Children’s Hospital of Philadelphia, on March 16, 2022.

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Course Includes

  • 1 Lesson
  • Course Certificate
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