Medical Genetics



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Faculty and Staff


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, PhDIdentification 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, MDClinical genetics, dysmorphology, Fabry disease.
David Millington, PhDMass spectrometry methods for diagnosis and monitoring of metabolic disorders, newborn screening, studying glucose metabolism and oxidative stress; metabolomics.
Loren Pena, MDDiagnosis and management of inborn errors of metabolism, lysosomal storage disorders, neurodegenerative disorders, skeletal dysplasias, cultural competence in genetics
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, MDCardiac manifestations of genetic disorders.
Biological therapy, genetic variation, genetic vectors, mass spectrometry, neonatal screening, creatinine deficiency syndromes, Molybdenum cofactor disorders, Pompe disease, urinary biomarkers.



Contact Information
Vellore Kasturi, MD
Medical Genetics Resident
(919) 668-4173

Clinical Staff

Contact Information
Stephanie Austin, MS, MACertified Genetic Counselor
(919) 668-1347
Lauren Bailey, MSCertified Genetic Counselor(919) 613-0948
Jane Ann Baker, MSCertified Genetic Counselor(919) 668-4576
Mimi Coker, MSClinical Trials Assistant II(919) 668-3107
Rebecca Crimian, MSCertified Genetic Counselor(919) 668-1340
Blythe Crissman, MS, CGC Certified Genetic Counselor
(919) 681-1976
Amy Dameron, MS, CGCCertified Genetic Counselor(919) 681-2410
Stephanie DeArmey, MHS, PA-CCertified Physician Assistant
(919) 681-1946
Carol Elliot, MSClinical Research Coordinator I(919) 681-2401
Elizabeth Heise, MS, CGC
Certified Genetic Counselor, Sr.
(919) 668-2196
Yezmin Perilla-Young, MSCertified Genetic Counselor9919) 681-2410
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
Brittany Taylor, RD, LDNMetabolic Dietitian(919) 681-1932
Crista Walters, RNNurse Practitioner(919) 620-3853

Research and Laboratory Diagnostics Staff

Contact Information
Andrew Bird, BA 
Laboratory Research Analyst I
Koeberl Lab 
(919) 681-9925
Elizabeth Brooks, DVMVeterinary Fellow(919) 668-6199
Xinyu CaoResearch Technician II(919) 613-5104
Jane Dai, BSLaboratory Research Analyst I(919) 668-6196
Jennifer Goldstein, PhD, CGCClinical Research Coordinator
(919) 549-0445
(919) 684-0626
Zoheb Kazi, PhDPostdoctoral Associate(919) 613-6310
Songtao Li, BS
Laboratory Research Analyst I
Koeberl Lab 
(919) 681-9925
Cheng Lu, BSResearch Technician II(919) 668-6196
Pankaj Prasun, MDMedical Genetics Fellow(919) 613-8313
Camilla Sanders, BSResearch Technician II9919) 613-6245
Mihaela Stefanescu, BSClinical Trials Assistant(919) 613-8308
Ahirudh Ullal, PhDResearch Associate, Senior(919) 684-0619
Ping Wang, PhDPostdoctoral Associate(919) 668-4172
Xiaoming Wang, PhD
Postdoctoral Associate
(919) 613-5104
Chunyu Yang, BSResearch Technician II(919) 668-6196
Haiqing Yi, PhD
Postdoctoral Associate
(919) 668-6196
Haoyue Zhang, PhD 
Research Scientist
Mass Spectrometry Laboratory
(919) 549-0445
(919) 684-4429

Administrative Staff

Contact Information
Patsy Chase
Staff Specialist
(919) 681-2524
Dawn ChestnutFinancial Management Analyst (Pre and Post award)
(919) 681-2676
Rosa Crews
Medical Secretary
Clinical Administration
(919) 668-6157
Sandra Durden
Staff Specialist
(919) 684-0307
J. Janine Edmundson, MHASenior Business Manager(919) 668-4834
Beverly Foushee, AAS
Staff Assistant
Division Administration 
(919) 681-9854
Diane Frazier
Staff Specialist
Clinical Administration 
(919) 684-3729
Carla Johnson
Clinical Trials Specialist
(919) 668-6139
Carla Rose
Staff Assistant, Division Administration
(919) 681-2787
Joye Voshell, BS
Administrative Manager,
Division Administrator 
(919) 668-6192