Medical Genetics
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 the full gambit of issues swirling about numerous, patient-focused issues, with major strengths being in its biochemical and molecular genetic capabilities, both diagnostically and therapeutically. 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.
Treatments
The Division offers a comprehensive clinical genetics service 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
Physicians
| Name | Areas of Special Interest |
|---|---|
| Priya Kishnani, MD | Down syndrome -- long-term follow-up, management, and treatment interventions to improve cognition; glycogen storage diseases with focus on types I, II, III, and IX for natural history, long-term complications, and treatment interventions; lysosomal storage diseases (Gaucher, Pompe, Fabry, Mucopolysaccharidosis) -- long-term follow-up, natural history, and treatment interventions such as enzyme replacement therapy; management and treatment of metabolic disorders (fat acid oxidation defects, urea cycle disorders, mitochondrial disease) |
| Marie T. McDonald, MD | Clinical genetics, dysmorphology, birth defects, metabolic disorders, cancer genetics, Fabry disease, and lysosomal storage disorders |
| Stephanie Burns Wechsler, MD | Congenital heart disease occurring as part of genetic syndromes, as well as other cardiovascular diseases with a genetic cause including cardiomyopathies and connective tissue diseases such as Marfan syndrome |
Location
Division of Medical Genetics • Department of Pediatrics
237B Bell Building
Box 3528, Duke University Medical Center
Durham, North Carolina 27710
Tel: 919-684-2036 or 919-684-3729
Fax: 919-684-8944
Appointments and Contact Information
Clinical appointments and information: 919-684-2036 or e-mail frazi006@mc.duke.edu
Research updates: 919-684-2036
