medgenetics.pediatrics.duke.edu  
Division of Medical Genetics

Advocacy

Stephanie Austin, MS, is a member of the Association for Glycogen Storage Diseases Scientific Advisory Board. 

Blythe Crissman, MS, CGC, serves on the International Mosaic Down Syndrome Society Medical Advisory Board and is a certified Sibling Support Project (Sibshops) volunteer.
 
Dwight Koeberl, MD, PhD, is on the Board of Directors for the Association for Glycogen Storage Diseases and is a member of the North Carolina Newborn Screening Advisory Committee.
 
Joanne Mackey, RN, MSN, CPNP, volunteers for the Triangle Down Syndrome Network and is a member of the Pediatric Prescribed Advisory Board, a daycare for medically fragile children based in Raleigh, NC. In addition, she is a health-screening volunteer and guest presenter at the Association of Self-Advocates of North Carolina Annual Convention.
 
David S. Millington, PhD, is a member of the North Carolina Newborn Screening Advisory Committee.
 
Jennifer Sullivan-Saarela, MS, CGC, is currently chair of the Communications Committee for the National Society of Genetic Counselors and has previously served on several other NSGC committees. She is also a member of the Planning Committee for Genzyme Therapeutics Lysosomal Storage Disorders 13th Annual Healthcare Advocates Meeting and serves on the External Advisory Committee for the UNC-Greensboro Genetic Counseling Program. In addition, she has served on the Association for Glycogen Storage Diseases Scientific Advisory Board.
 

 


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Contact Information
Division Offices
595 LaSalle Street
4th Floor, GSRBI
Box 103856 DUMC
Durham, NC 27710
919-684-2036
Fax: 919-684-8944
 
General Information
Dianne Frazier
919-684-2036

Laboratory Services
Fax: 919-549-0709  
 
Clinics
General Genetics Clinic
Appointments and Information: 
919-684-2036, option 1 or
919-668-4000 
 
Metabolic Clinic
Appointments and Information: 
919-684-2036, option 2
 
Autism/Medical Genetics
Appointments and Information: 
919-684-2036, option 1

Cardiovascular Genetics Clinic
Appointments: 919-668-4000
Information: 919-668-2196
 
Down Syndrome Clinic
Appointments and Information:
919-684-0307 or
919-681-1976
 
Fragile X Clinic
Appointments and Information: 
919-668-4468 or
919-668-4000 
 
Marfan/Connective Tissue Disorders Clinic
Appointments: 919-668-4000
Information: 919-668-2196

22q11 Deletion Syndrome Clinic

Appointments: 919-681-2524
Information: 919-684-2036
 
Neurometabolic Clinic
Appointments and Information:
Contact the Division of Neurology

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

Dietician
Anne Boney, MEd, RD, LDN 
919-681-1932 
boney002@mc.duke.edu

Prescriptions
Contact your treating physician.
If unavailable, contact the Pediatric Geneticist on call (above) 



 
 
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