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 S. Kishnani, MD, 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