DUKE UNIVERSITY
SCHOOL OF MEDICINE
DUKEHEALTH.ORG
| Division of Medical Genetics |
Faculty and Staff
Faculty
|
Name |
Areas of Special Interest |
|
| Down syndrome, glycogen storage diseases, lysosomal storage disorders, natural history and long-term issues. Treatment strategies for these disorders (small molecule, enzyme replacement therapy). |
| Deeksha Bali, PhD | Biochemical and molecular diagnosis of glycogen storage diseases and lysosomal storage diseases, liver adenomas and HCC in GSDI patient population. Pompe disease and myopathy associated with various GSDs and its treatment using different treatment modalities. |
|
Glycogen storage diseases, pharmacogenomics, Stevens-Johnson syndrome, role of a novel glucose transporter in diabetes mellitus. | |
| Gregory Crawford, PhD | Identification and characterization of gene regulatory elements. |
|
Clinical genetics and metabolism, genetic basis of neurobehavioral disorders including autism spectrum disorder, Angelman and Prader-Willi syndromes | |
|
Gene therapy for inherited disorders of metabolism, including glycogen storage disease type Ia, Pompe disease, phenylketonuria, trifunctional protein deficiency, galactosemia, propionic acidemia, and hemochromatosis. | |
| Allyn McConkie-Rosell, PhD | Genetic risk communication in childhood, genetic testing in children, Fragile X syndrome, genetic counseling. |
| Marie McDonald, MD | Clinical genetics, dysmorphology, Fabry disease. |
| David Millington, PhD | Mass spectrometry methods for diagnosis and monitoring of metabolic disorders, newborn screening, studying glucose metabolism and oxidative stress; metabolomics. |
|
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 Wechsler, MD | Cardiac manifestations of genetic disorders. |
|
Biological therapy, genetic variation, genetic vectors, mass spectrometry, neonatal screening, creatinine deficiency syndromes, Molybdenum cofactor disorders, Pompe disease, urinary biomarkers. |
Clinical and Research Fellows
|
Name |
Role |
Contact Information |
|
Adviye Ayper Tolun, PhD |
Biochemical Genetics Fellow |
(919) 549-0445
(919) 684-3126
|
|
Susan Michalowski, PhD |
Cytogenetics/Molecular Genetics fellow |
(919) 613-8470
|
Clinical Staff
|
Name |
Role |
Contact Information |
| Stephanie Austin, MS | Genetic Counselor |
(919) 668-1347
|
| Anne Boney, MEd, RD, LDN | Dietician |
(919) 681-1932
|
|
Michelle Canfield, RN, MSN, FNP-BC
|
Nurse Practitioner |
(919) 688-2195
|
| Blythe Crissman, MS | Certified Genetic Counselor |
(919) 681-1976
|
| Stephanie DeArmey, MHS, PA-C | Certified Physician Assistant |
(919) 681-1946
|
|
Elizabeth Heise, MS |
Certified Genetic Counselor, Sr. |
(919) 668-2196
|
|
Joanne Mackey, MSN, RN | Certified Pediatric Nurse Practitioner |
(919) 681-1945
|
| Jane Ann McKillop, MS | Certified Genetic Counselor |
(919) 668-4576
|
|
Alexis Poss, MS | Certified Genetic Counselor |
(919) 681-1984
|
|
Kelly Schoch, MS |
Certified Genetic Counselor |
(919) 681-2772
|
| Jennifer Sullivan, MS | Certified Genetic Counselor, Sr. |
(919) 681-1991
|
Research and Laboratory Diagnostics Staff
|
Name |
Role |
Contact Information |
| Andrew Bird, BA |
Laboratory Research Analyst I
Koeberl Lab |
(919) 681-9925
|
| Kelley Boyd, BS |
Research Technician II
Mass Spectrometry Laboratory
|
(919) 549-0445
(919) 684-0066
|
| Keri Boyette, MS |
Research Analyst I
Molecular Genetics Lab |
(919) 668-6196
|
|
Jian Dai, BS |
Laboratory Research Analyst I
Molecular Genetics Lab |
(919) 668-6196
|
| Gwen Dickerson, BS |
Research Technician II
GSD Lab |
(919) 549-0445
(919) 684-0338
|
| Jennifer Goldstein, PhD, CGC | Clinical Research Coordinator |
(919) 549-0445
(919) 684-0626
|
| Steve Hillman, BS |
Scientific/Research Laboratory Manager
Mass Spectrometry Laboratory |
(919) 549-0445
|
| Songtao Li, BS |
Research Technician II
Koeberl Lab |
(919) 681-9925
|
|
Hui-Ming Liu, MD |
Laboratory Research Analyst I
GSD Lab |
(919) 549-0445
(919) 684-0679
|
|
Patricia McCaw, BS |
Certified Medical Technologist
Mass Spectrometry Laboratory |
(919) 549-0445
(919) 684-2748
|
|
Denise Peterson, BS |
Research Laboratory Specialist
GSD Lab |
(919) 549-0445
(919) 684-2722
|
|
Doris Sanders, BS |
Certified Medical Technologist
Mass Spectrometry Laboratory |
(919) 549-0445
(919) 684-2740
|
|
Baodong Sun, PhD |
Research Scientist, Sr.
Koeberl Lab |
(919) 681-9925
|
|
Wade Syers, BS |
Research Technician II
Mass Spectrometry Laboratory |
(919) 549-0445 |
|
Adviye Ayper Tolun, PhD |
Postdoctoral Associate/Biochemical Fellow
|
(919) 549-0445
(919) 684-3126
|
|
Amie Vaisnins-Carroll, BS |
Research Technician II
Mass Spectrometry Laboratory |
(919) 549-0445
(919) 684-3260
|
|
Eileen Winchester, BS |
Research Technician II
Mass Spectrometry Laboratory |
(919) 549-0445
(919) 684-4486
|
|
Sarah Young, PhD |
Research Scientist, Sr.
Mass Spectrometry Laboratory |
(919) 549-0445
(919) 684-4259
|
|
Haoyue Zhang, PhD |
Research Scientist
Mass Spectrometry Laboratory |
(919) 549-0445
(919) 684-4429
|
Administrative Staff
|
Name |
Role |
Contact Information |
| Patsy Chase |
Staff Specialist
|
(919) 681-2524
|
| Donna Chiappone |
Staff Specialist
MSRB/Mass Spectrometry Administration |
(919) 668-6199
(919) 549-0445
(919) 684-0189
|
| Rosa Crews |
Medical Secretary
Clinical Administration |
(919) 668-6157
|
|
Adrienne Davenport |
Administrative Secretary
MSRB/Mass Spectrometry Administration |
(919) 549-0445
(919) 684-0073
|
|
Sandra Durden |
Staff Specialist, Clinical Administration |
(919) 684-0307
|
| Elaine Emory |
Financial Management Analyst |
(919) 681-2401
|
| Beverly Foushee |
Staff Assistant
Division Administration |
(919) 681-9854
|
| Diane Frazier |
Staff Specialist
Clinical Administration |
(919) 684-3729
|
|
Carla Johnson |
Clinical Trials Assistant II |
(919) 668-6139
|
|
Carla Rose |
Staff Assistant |
(919) 681-2787
|
|
Stephanie Terry |
Staff Specialist Mass Spectrometry Laboratory |
(919) 549-0445
(919) 684-2969
|
| Joye Voshell |
Administrative Coordinator
Division Administration |
(919) 668-6192
|
| Carol Ware |
Accounting Specialist
Financial Administration |
(919) 668-3107
|
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