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 faculty and 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 clinical genetics services in ten unique programs and clinics including a Pompe Disease Clinical and Research Program, Comprehensive Down Syndrome Program, Glycogen Storage Disease Program, General Genetics Clinic, Metabolic Clinic, Autism/Medical Genetics Clinic, Cardiovascular Genetics Clinic, Fragile X Syndrome Clinic, Marfan/Connective Tissue Disorder Genetics Clinic and a 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.

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Research, Treatments for Pompe Disease Span Three Decades

Duke Health geneticist Priya Kishnani, M.D., and patient Haley Hayes and her mother Krystal Hayes describe advancements in research and treatment of Pompe disease at Duke University, including support for newborn screening for rare diseases.

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