Medical Genetics

Providing expert clinical evaluation, counseling, and testing for a wide variety of genetic conditions.

The Division of Medical Genetics at Duke University Medical Center is internationally recognized for delivering the highest quality of comprehensive clinical genetics services by addressing all aspects of patient care for rare genetic and metabolic diseases, including genetic counseling, laboratory diagnostics, medical management, therapeutic strategies and treatment services.

Our faculty and staff include clinical geneticists, biochemical geneticists, molecular geneticists, genetic counselors, psychologists, nurse practitioners, physician's assistants, physical therapists, speech therapists, and social workers. Annually, we serve hundreds of pediatric and adult inpatient consultations and thousands of patients throughout our various outpatient specialty clinics.

Our clinical expertise is coupled with multiple, internationally recognized research initiatives to facilitate the transition of scientific discoveries into practical applications of improving human health.

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Treatments

The Division of Medical Genetics offers comprehensive clinical services for patients and families with a variety of genetic conditions, including inborn errors of metabolism, congenital birth defects, abnormalities of newborn screening tests, developmental delay, intellectual disability, hereditary cancer syndromes, adult-onset genetic disorders, among others.

To best meet the needs of our patients, we offer genetic counseling, diagnostic, management and treatment services throughout several multidisciplinary specialty clinics:

Clinical Genetics Services

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Physicians and Staff

Physicians

Name	Areas of Special Interest
Yong-hui Jiang, MD, PhD	Clinical and metabolic genetics, genetic syndromes, evaluation and treatment of metabolic disorders, genetic evaluation of neurodevelopmental and neurometabolic disorders, autism spectrum disorders, genomic imprinting disorders including Angelman and Prader-Willi syndromes
Priya S. Kishnani, MD, MB BS	Glycogen Storage Disease with focus on Types I, II, III, and Type IX (natural history, long-term complications, and treatment interventions); lysosomal storage diseases such as Gaucher, Pompe, Fabry, Mucopolysaccharidosis (long-term follow-up, natural history, and treatment interventions such as enzyme-replacement therapy, small molecule therapy); Down syndrome (long-term follow-up, management, and interventions to improve cognition); management and treatment of metabolic disorders such as fat acid-oxidation defects, urea-cycle disorders, and mitochondrial disease
Dwight D. Koeberl, MD, PhD	Genetic disorders including metabolic disorders, mitochondrial disorders and syndromes; biochemical and metabolic testing; evaluation of children with growth failure or developmental delay; treatment of inherited disorders of metabolism, especially by enzyme replacement or gene therapy; newborn screening
Marie T. McDonald, MD, MB BCh	Clinical genetics, dysmorphology, birth defects, metabolic disorders, cancer genetics, Fabry disease, lysosomal-storage disorders
Vandana Shashi, MD, MB BS	Chromosome 22q11 deletion syndrome (also known as DiGeorge syndrome or velocardiofacial syndrome); evaluation and management of children with birth defects, mental retardation and developmental delays
Stephanie Burns Wechsler, MD	Congenital heart disease occurring as part of genetic syndromes; other cardiovascular diseases with a genetic cause, including cardiomyopathies and connective-tissue diseases such as Marfan syndrome