Medical Genetics

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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, PhDBiochemical 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, CGCGenetic 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.

 

Clinical and Research Fellows

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
 

Clinical Staff

Name 
Role
Contact Information
Stephanie Austin, MS, MACertified Genetic Counselor
(919) 668-1347
Anne Boney, MEd, RD, LDNDietician
(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-CCertified Physician Assistant
(919) 681-1946
Courtney Downtain, MSGenetic 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, MSCertified 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
 

Research and Laboratory Diagnostics Staff

Name 
Role
Contact Information
Lina Babino-Newman
Medical Laboratory Clerk
(919) 549-0445
(919) 684-0018
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
 
Eileen Gilbert
Research Technician II
Mass Spectrometry Laboratory
(919) 549-0445
(919) 684-4486
Jennifer Goldstein, PhD, CGCClinical 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
 

Administrative Staff

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