Division of Medical Genetics

Division Overview

Faculty and staff in the Division of Medical Genetics are committed to excellence in providing comprehensive services in the diagnosis, treatment, and management of all forms of hereditary disorders and birth defects affecting fetuses, newborns, children, adolescents and adults. Our staff is comprised of clinical geneticists, biochemical geneticists, molecular geneticists, genetic counselors, psychologists, and nurse practitioners as well as physician's assistants, physical therapists, speech therapists, and social workers. To best serve the needs of our patients, we offer a wide variety of services in eight unique clinics including a General Genetics Clinic, Metabolic Clinic, Autism/Medical Genetics Clinic, Cardiovascular Genetics Clinic, Down Syndrome Clinic, Fragile X Syndrome Clinic, Marfan/Connective Tissue Disorder Genetics Clinic and 22q11 Deletion Syndrome Clinic.

Our expertise in laboratory diagnosis is commensurate with the quality of our clinical services. The Mass Spectrometry laboratory has been the site of multiple new innovations in the diagnosis and monitoring of patients with metabolic disorders, and the Glycogen Storage Disease (GSD) laboratory provides state-of-the-art methods for diagnosing all types of GSDs. Both laboratories are actively involved in cutting-edge research to develop innovative methods for the diagnosis and monitoring of these conditions.

In addition to clinical and laboratory diagnostic services, the Division of Medical Genetics offers a rich and creative research environment involving collaborations with experts in multiple disciplines at the national and international levels. Major research advances have been made in newborn screening using Tandem Mass Spectrometry, enzyme replacement therapy for Pompe Disease, molecular and clinical characterization of Glycogen Storage Diseases, gene therapy, diagnosis of metabolic disorders, and treatment of Down Syndrome. The division’s research program also promotes a comprehensive understanding of the social and ethical implications of genetic testing in children. Ultimately, the unique blend of clinical, laboratory and research expertise within the division facilitates the translation of scientific discoveries into practical applications with the overarching goal of improving human health.

News

Duke's Pompe Research Inspires Movie - Research at Duke University Medical Center plays a central role in the story behind the story of the new film Extraordinary Measures, which debuts on January 22. Watch Video

The Boy Who Woke Up Late - This story is about a boy with a rare metabolic disorder, GAMT deficiency, and his treatment at Duke.

Hunting Newborn Tests for Super-Rare Gene Diseases - As a result of one family’s experience with their toddler’s metabolic disease, Duke researchers are working on a way to test newborns for some of the rarest diseases at birth.

All For a Few Drops of Blood. . . - This article about North Carolina’s infant screening, which identifies genetic and metabolic disorders, mentions David Millington, PhD, Professor of Pediatrics in the Division of Medical Genetics, who helped expand the screening to include more disorders in the 1990s.