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.
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
Mari Mori, MD
Medical Genetics Fellow
(919) 613-8313 
Khoon Ghee "Queenie" Tan, MDMedical Genetics Resident(919) 613-8305

Clinical Staff

Contact Information
Lauren Bailey, MS, CGCGenetic Counselor(919) 613-0948
Jane Ann Baker, MS, CGCGenetic Counselor(919) 668-4576
Katie Berrier, MS, CGCGenetic Counselor(919) 681-1984
Jennifer Coker, BSNNurse Clinician(919) 668-2196
Blythe Crissman, MS, CGC Genetic Counselor
(919) 681-1976
Stephanie DeArmey, MHS, PA-CPhysician Assistant
(919) 681-1946
Sarah Hart, PhD, MS, MAGenetic Counselor(919) 613-8307
Erica Nading, MS, CGC
Genetic Counselor
(919) 681-2774
Surekha Pendyal, MSc, MEd, RDDietician(919) 681-1932
Yezmin Perilla-Young, MS, CGC
Genetic Counselor
(919) 613-0112
Kacie Riley, MS, CGC
Genetic Counselor
(919) 684-3127
Kelly Schoch, MS, CGC Genetic Counselor
(919) 681-2772
Rebecca Spillman, MS, CGCGenetic Counselor(919) 668-1340
Crista Walters, MS, PPD, NP-BCNurse Practitioner(919) 681-1945

Research and Laboratory Diagnostics Staff

Contact Information
Stephanie Austin, MS, MA, CGC 
Research Project Manager
(919) 668-1347
Elizabeth Brooks, DVMStaff Veterinarian(919) 668-6199
Xinyu CaoResearch Technician II(919) 613-5104
Nicole Clark, BSResearch Technician II
(Crawford Lab)
(919) 684-8196
Ankit Desai, MBBSPostdoctoral Associate(919) 613-6310
Lara Duffney, PhD
Postdoctoral Associate
(919) 613-5104
Fengqin Gao, BSLaboratory Research Analyst I(919) 681-8933
Jennifer Goldstein, PhD, MSClinical Research Coordinator I(919) 684-0626
Sang Oh Han, PhDPostdoctoral Associate(919) 681-9925
Linda Hong, BSLaboratory Research Analyst II (Crawford Lab)(919) 684-8281
Carla JohnsonClinical Trials Specialist(919) 668-6139
Zoheb Kazi, MBBSPostdoctoral Associate(919) 613-6310
Yuna Kim, PhD
Research Associate, Sr.
(919) 613-5104
Songtao, Li, BSLaboratory Research Analyst I(919) 681-9925
Cheng Lu, BS
Research Technician II
(919) 668-6196
Jeremiah McLeod
Research Technician II
(Crawford Lab)
(919) 684-8196
Alexias SafiLaboratory Research Analyst I
(Crawford Lab)
(919) 684-8430
Camilla Sanders, BSResearch Technician II(919) 681-2777
Lingyun Song, PhDResearch Associate, Sr.
(Crawford Lab)
(919) 684-8430
Mihaela Stefanescu, BSClinical Research Coordinator I(919) 681-4026
Jennifer Sullivan, MS, CGCGenetic Counselor(919) 681-1991
Tao Sun, PhDResearch Associate, Sr.(919) 681-8933
Nicole Walley, MSClinical Research Coordinator II(919) 668-5189
Xiaoming Wang, PhDResearch Associate, Sr.(919) 613-5104
Chengzhi Xie, PhDResearch Associate, Sr.(919) 668-6196
Xiaodi Yao, PhDPostdoctoral Associate(919) 613-5104
Haiqing Yi, PhDResearch Associate, Sr.(919) 668-6196
Haoyue Zhang, PhDReserach Scientist, Sr.(919) 684-4429

Administrative Staff

Contact Information
Patsy Chase
Staff Specialist
(919) 681-2524
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
Carla Rose
Staff Assistant, Division Administration
(919) 681-2787
Joye Voshell, BS
Administrative Manager,
Division Administrator 
(919) 668-6192