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, CGC | 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. | |
| Development of effective treatment for glycogen storage diseases types I, II, III and IV using gene therapy, enzyme replacement therapy and substrate reduction therapy approaches. | |
| 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. |
Name | Role | Contact Information |
Areeg El-Gharbawy, MD | Biochemical Genetics Fellow | (919) 549-0445 (919) 684-0619 |
Michele Spencer-Manzon, MD | Resident Fellow | (919) 684-2036 (919) 668-4173 |
Adviye Ayper Tolun, PhD | Biochemical Genetics Fellow | (919) 549-0445 (919) 684-3126 |
Name | Role | Contact Information |
| Stephanie Austin, MS, MA | Certified 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, CGC | Certified Genetic Counselor | (919) 681-1976 |
| Stephanie DeArmey, MHS, PA-C | Certified Physician Assistant | (919) 681-1946 |
| Courtney Downtain, MS | Genetic Counselor | (919) 681-2410 courtney.downtain@duke.edu |
Elizabeth Heise, MS, CGC | Certified Genetic Counselor, Sr. | (919) 668-2196 |
Jim Heller, MA, MS, CCC | Clinical Associate | (919) 684-0261 |
Joanne Mackey, CPNP, MSN, RN | Certified Pediatric Nurse Practitioner | (919) 681-1945 |
| Jane Ann McKillop, MS | Certified Genetic Counselor | (919) 668-4576 |
Christie Milleson, BA | Clinical Trials Assistant I | (919) 681-2401 |
Kelly Schoch, MS, CGC | Certified Genetic Counselor | (919) 681-2772 |
Katie Sheets, MS, CGC | Certified Genetic Counselor | (919) 681-1984 |
| Jennifer Sullivan, MS, CGC | Certified Genetic Counselor, Sr. | (919) 681-1991 |
Name | Role | Contact Information |
Lina Babino-Newman | Medical Laboratory Clerk | |
Suhrad Banugaria, MBBS | Postdoctoral Associate | (919) 613-6310 |
| Andrew Bird, BA | Laboratory Research Analyst I Koeberl Lab | (919) 681-9925 |
Leeyup Chung, PhD | Postdoctoral Associate | (919) 613-5104 |
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 |
Drina Dunlap, BS | Research Technician I | (919) 9925 |
Keri Fredrickson, MS | Research Analyst I Molecular Genetics Lab | (919) 668-6196 |
Eileen Gilbert | Research Technician II Mass Spectrometry Laboratory | |
| 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 |
Xiaoyan Luo, PhD | Research Scientist, Sr | (919) 681-9925 |
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 |
Erin Tracy, MS | Research Technician II Mass Spectrometry Laboratory | (919) 549-0445 (919) 684-0331 |
Amie Vaisnins-Carroll, BS | Research Technician II Mass Spectrometry Laboratory | (919) 549-0445 (919) 684-3260 |
Xiaoming Wang, PhD | Postdoctoral Associate | (919) 613-5104 |
| Haiqing Yi, PhD | Postdoctoral Associate | (919) 668-6196 |
Haoyue Zhang, PhD | Research Scientist Mass Spectrometry Laboratory | (919) 549-0445 (919) 684-4429 |
Ping Zhang, PhD | Postdoctoral Associate | (919) 681-9925 |
Li Zhu, PhD | Postdoctoral Associate | (919) 613-5104 |
Name | Role | Contact Information |
Jack Bowden, BA | Staff Specialist, Mass Spectrometry Administration | (919) 668-6199 (GSRB1) (919) 684-0189 (Mass Spec) |
| Patsy Chase | Staff Specialist | (919) 681-2524 |
| Rosa Crews | Medical Secretary Clinical Administration | (919) 668-6157 |
Adrienne Davenport | Administrative Secretary, Mass Spectrometry Administration | (919) 549-0445 (919) 684-0073 |
Sandra Durden | Staff Specialist | (919) 684-0307 |
| Beverly Foushee, AAS | 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 |
Barbara Hall | Financial Management Analyst (Pre and Post award) | (919) 681-2676 |
Carla Rose | Staff Assistant, Division Administration | (919) 681-2787 |
Stephanie Terry | Staff Specialist Mass Spectrometry Laboratory | (919) 549-0445 (919) 684-2969 |
| Joye Voshell, BS | Administrative Manager, Division Administrator | (919) 668-6192 |
| Carol Ware | Accounting Specialist Financial Administration | (919) 668-3107 |
