Medical Genetics
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.
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:
- Pompe Disease Clinical and Research Program
- Comprehensive Down Syndrome Program
- Glycogen Storage Disease Program
- General Genetics Clinic
- Metabolic Clinic
- Autism/Medical Genetics Clinic
- Cardiovascular Genetics Clinic
- Fragile X Syndrome Clinic
- Marfan/Connective Tissue Disorder Genetics Clinic
- 22q11 Deletion Syndrome Clinic
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, 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, MB BS | 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
Hours: Daily, 8:30 am - 5:00 pm
Hours: Daily, 8:00 am - 4:30 pm
Hours: Second Tuesday of each month, 8:00 am - 5:00 pm
Administrative and Clinical Offices
905 S. LaSalle Street
Box 103856 DUMC
Fax: 919-684-8944
Biochemical Genetics Laboratory
Mass Spectrometry Laboratory
Glycogen Storage Disease Laboratory
Durham, NC 27713
Tel: 919-549-0445
Appointments and Contact Information
Appointments and Information: 919-684-2036, option 1 or 919-668-4000
Fax: 919-668-0414
Fax: 919-668-0414
Appointments and Information: 919-684-0307 or 919-681-1976
Appointments and Information: 919-668-4468 or 919-668-4000
Fax: 919-668-0414
Fax: 919-668-0414
22q11 Deletion Syndrome Clinic
Fax: 919-668-0414
Fax: 919-668-0414
Urgent Calls
Dietician
Quick Links
- Medical Genetics Home
(Duke Children's) - Division of Medical Genetics
(Duke School of Medicine) - Clinical Genetics Services
- Pompe Disease Clinical and Research Program
- Comprehensive Down Syndrome Program
- Glycogen Storage Disease Clinical and Research Program
- General Genetics Clinic
- Metabolic Clinic
- Autism/Medical Genetics Clinic
- Cardiovascular Genetics Clinic
- Fragile X Syndrome Clinic
- Marfan/Connective Tissue Disorder Genetics Clinic
- 22q11 Deletion Syndrome Clinic
Upcoming Events
2nd Annual Duke University-United Pompe Foundation Pompe Social & Patient Meeting (April 19 -20, 2013)
What: Clinic Appointments
When: Thursday, April 18 and Friday, April 19, 2013
Where: Lenox Baker Hospital
Time: By appointment only
Contact: 919.668.1347 or stephanie.austin@duke.edu
[Directions]
What: Patient Social & Cocktail Reception
When: Friday, April 19, 2013
Where: Hilton Garden Inn Durham Southpoint Hotel
Time: 6:00 to 9:00 pm
[Directions]
What: Late-Onset Pompe Patient Program
When: Saturday, April 20, 2013
Where: Hilton Garden Inn Durham Southpoint Hotel
Time: 9:00 am to 4:00 pm
[Directions]
RSVP: By March 30, 2013
919.681.1984 or katie.sheets@duke.edu
Download Invitation
[PDF, 622KB]
10th Annual Anna's Angels Gala
What: 10th Annual Anna's Angels Gala
When: Saturday, March 9, 2013
Where: Prestonwood Country Club
Time: 6:00 pm to midnight
Join us for the 10th Annual Anna's Angels Gala for an evening of celebration to raise essential funds to support Down syndrome research at Duke.
[Learn more]
Save the Date
1st Annual Infantile Onset Pompe Disease Patient Meeting
(August 15 - 17, 2013)
Download Flyer
[PDF, 97.5KB]
Duke Resources
Articles
- Targeted Gene Therapy Enhances Treatment for Pompe Disease
- Cancer Drugs Help the Hardest Cases of Pompe Disease
- Clinical Genetic and Genomic Evaluation: What's at Duke
- Duke's Pompe Research Inspires Movie
- Giving Wings to Down Syndrome Research
- First Trimester Screening
- Maternal Serum Screening
- Autism: What It Is, What Can Be Done
- Gene Therapy Could Save Kids From a Lifetime of Eating Cornstarch
Web Sites
- Pediatric Division of Medical Genetics
(Duke School of Medicine) - Pediatric Clinical Trials (Medical Genetics)
- Duke Institute for Genome Sciences & Policy
- Duke Center for Human Genetics
- Duke Autism Clinic
Related Content
- American Board of Medical Genetics
- American College of Medical Genetics
- American Society of Human Genetics
- American Society of Gene Therapy
- Gene Tests
- Genetic Alliance
- National Society of Genetic Counselors
- North Carolina Medical Genetics Association
- Association for Glycogen Storage Disease (AGSD)
- Association for Glycogen Storage Disease (UK)
- Acid Maltase Deficiency Association, Inc.
- National Fragile X Foundation
There are many ways you can help to support research and treatment for genetic and metabolic conditions. Concerned individuals, companies and organizations have made it possible for Duke University to continue its research efforts and programs to aid those with genetic conditions and their families. If you would like to make a contribution, please visit our online form and specify Medical Genetics in the Gift Designation section.
