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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.


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

    Physicians and Staff


    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, MBBS 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, 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
    Loren D.M. Pena, MD, PhD Diagnosis and management of inborn errors of metabolism, lysosomal storage disorders, neurodegenerative disorders, skeletal dysplasias, cultural competence in genetics
    Vandana Shashi, MD, MBBS Chromosome 22q11 deletion syndrome (also known as DiGeorge syndrome or velocardiofacial syndrome); evaluation and management of children with birth defects, mental retardation, 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

    Research Faculty

    Clinical and Research Fellows

    Clinical Staff

    Research and Laboratory Diagnostics Staff

    Administrative Staff

    Clinic Hours & Locations

    Duke Children's Hospital & Health Center
    2301 Erwin Road
    Durham, NC 27710
    Tel: 919-668-4000

    Hours: Daily, 8:30 am - 5:00 pm

    Lenox Baker Children's Hospital
    3000 Erwin Road
    Durham, NC 27705
    Tel: 919-684-6669

    Hours: Daily, 8:00 am - 4:30 pm

    Duke Children’s and WakeMed Children's Specialty Services
    23 Sunnybrook Road, Suite 200
    Raleigh, NC 27610
    Tel: 919-862-1200
    Hours: Monday - Friday, 8:00 am - 5:00 pm

    Administrative and Clinical Offices

    4th Floor, GSRBI
    Box 103856 DUMC
    Durham, NC 27710
    Tel: 919-684-2036
    Fax: 919-684-8944

    Biochemical Genetics Laboratory

    Mass Spectrometry Laboratory
    Glycogen Storage Disease Laboratory

    801 Capitola Drive, Suite 6
    Durham, NC 27713
    Tel: 919-549-0445
    Fax: 919-549-0709 

    Appointments and Contact Information

    General Genetics Clinic
    Appointments and Information: 919-684-2036, option 1 or 919-668-4000  
    Fax: 919-668-0414 

    Metabolic Clinic
    Appointments and Information: 919-684-2036, option 2
    Fax: 919-668-0414 

    Appointments and Information: 919-684-2036, option 1
    Fax: 919-668-0414
    Appointments: 919-668-4000
    Information: 919-668-2196
    Fax: 919-668-0414

    Down Syndrome Clinic
    Appointments and Information919-684-0307 
    Fax: 919-668-0414

    Fragile X Syndrome Clinic
    Appointments and Information: 919-668-4468 or 919-668-4000
    Fax: 919-613-2384 

    Appointments: 919-668-4000
    Information: 919-668-2196
    Fax: 919-668-0414

    22q11 Deletion Syndrome Clinic
    Appointments: 919-681-2524
    Information: 919-684-2036
    Fax: 919-668-0414

    Appointments and Information: 919-684-2036, option 2
    Fax: 919-668-0414

    Urgent Calls
    Pediatric Geneticist on call 24/7: 919-684-8111, ask for pager 919-970-2200

    Metabolic Dietician