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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 is in the Department of Pediatrics at Duke University Medical Center, and its faculty and staff specialize in the diagnosis and treatment of genetic and metabolic diseases, both in children and adults. The Division is truly a Center of Excellence for the current practice of both Medical and Biochemical Genetics, as our expertise covers an extensive range of patient-focused issues, with major strengths in diagnostic and therapeutic biochemical and molecular genetics capabilities. This clinical strength is coupled with multiple, internationally recognized, translational research initiatives that are well funded by private, corporate and government sponsors.

As a result, the Division of Medical Genetics is recognized internationally for providing comprehensive Clinical Genetics Services including diagnostic, management, and genetic counseling services for patients and families with any type of genetic or metabolic disorder.

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Treatments

The Division offers comprehensive Clinical Genetics Services for genetic and metabolic diseases including diagnosis, management, treatment, and genetic counseling. Multidisciplinary specialty clinics are available for inborn errors of metabolism, Down Syndrome, and Fragile X Syndrome.

Clinical care, both inpatient and outpatient is provided for patients and families with genetic conditions, inborn errors of metabolism, birth defects, malformation and dysmorphology syndromes, abnormalities of newborn screening tests, developmental delay/mental retardation and adult onset genetic disorders.

Metabolic Disorders

  • Fatty Acid Oxidation -includes medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
  • Organic Acidurias
  • Amino Acid Metabolism
  • Mitochondrial Disorders
  • Management of Newborn Screening identified patients
  • Dietary management of Metabolic Disorders
  • Lysosomal Disorders (eg Gaucher, Fabry, Pompe)
  • Glycogen Storage Diseases (including Pompe Disease)

Genetic and Syndromal Disorders

  • Neurofibromatosis
  • Marfan Syndrome/Connective Tissue Disorders
  • Down Syndrome
  • Fragile X Syndrome
  • Genetic Syndrome Diagnosis/Management
  • Congenital Anomaly Management/Counseling

Genetic Counseling for Pediatric and Adult Genetic Condition

  • Genetic Cancer Syndromes
  • Huntington Disease
  • Neurofibromatosis
  • Marfan Syndrome

Metabolic and Genetic Diagnostic Testing

  • Fatty Acid Oxidation Diseases
  • Amino Acid Metabolic Diseases
  • Organic Acid Diseases
  • Glycogen Storage Diseases

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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 Kishnani, MB BS Down syndrome (long-term follow-up, management, and interventions to improve cognition); glycogen-storage diseases, with focus on types 1, 2, 3, and 9 (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); 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 and syndromes, evaluation of children with growth failure or developmental delay, treatment of inherited disorders of metabolism, especially by enzyme replacement or gene therapy
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

 

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Clinic Hours & Locations

Duke Children's Hospital and 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 Child Development & Behavioral Health
402 Trent Drive
Durham, NC 27710
Tel: 919-668-5559


Hours: Second Tuesday of each month, 8:00 am - 5:00 pm

Administrative and Clinical Offices

Genome Sciences Research Building I
595 LaSalle Street
Durham, NC 27710
Tel: 919-684-2036

Biochemical Genetics Laboratory

Mass Spectrometry Laboratory
Glycogen Storage Disease Laboratory
 801 Capitola Drive, Suite 6
Durham, NC 27713
Tel: 919-684-2036


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Appointments and Contact Information

Clinical appointments and information: 919-684-2036 or e-mail frazi006@mc.duke.edu
Research updates: 919-684-2036

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