Jing Wang, MD, DABMGG, FACMG, ASCP (MB)
Associate Professor of Clinical Pathology and Laboratory MedicinePerelman School of Medicine at the University of Pennsylvania
Contact InformationChildren's Hospital of Philadelphia
716 Abramson Research Center
3615 Civic Center Blvd
Philadelphia, PA 19104
Email: wangj17@chop.edu
Specialty Division
CHOP Division of Genomic Diagnostics
Expertise Summary
Molecular diagnosis for neurodevelopmental disorders and mitochondrial disorders
Clinical Expertise
The main role of my clinical service is to provide integrated genomic testing to clinicians. I am particularly interested in neurodevelopmental disorders and mitochondrial disorders. Our lab has developed and validated a highly sensitive and accurate clinical testing for mtDNA analysis, permitting identification of genetic etiology for mitochondrial disorders due to mtDNA defects. I am also engaged in clinical application of whole exome sequencing and Next Generation Sequencing panel analysis for patients with neurodevelopmental disorders, epilepsy and other rare undiagnosed genetic disorders.
Research Expertise
Mitochondrial genome analysis by using single long-range PCR followed by NGS, which can simultaneously detect mtDNA point mutations, small indels, provide accurate heteroplasmy level. It is also a highly sensitive assay to detect mtDNA large deletion and multiple deletions. This assay has been widely adapted by clinical diagnostic laboratories and become a new gold standard for mtDNA analysis.
Other Expertise
Whole exome sequencing for pediatric neurodevelopmental disorders
Education
MD Sun Yat-sen University of Medical Sciences, China, 1986
M.Sc. (Medical Genetics), Sun Yat-sen University of Medical Sciences, China, 1989
Specialty Certification
American Board of Medical Genetics Clinical Molecular Genetics and Genomics (ABMGG), 2009
Clinical Genetic Molecular Biologist Scientist (CBMBS) License, 2016
American Society for Clinical Pathology (ASCP) Molecular Biology (MB), 2016
Postgraduate Training
Postdoctoral Fellow, Molecular Biology, Center for Molecular Biology of Oral Diseases, University of Illinois at Chicago, 1999-2000
Postdoctoral Fellow, Mitochondrial Diagnostic Laboratory, Baylor College of Medicine, 2006-2007
Fellow, ABMG Clinical Molecular Genetics, Baylor College of Medicine, 2007-2009
Awards and Honors
Outstanding Medical Student Award, Sun Yat-Sen University of Medical Sciences, 1986
Science and Technology Progress Award for project "Analysis of hemolytic anemia caused by hereditary erythrocyte enzyme deficiency," National Education Commission of China, 1987
Ministry of Public Health Award for project "Prevention and treatment for mental retardation caused by G6PD deficiency," Ministry of Public Health of China, 1991
Science and Technology Progress Award for project "Molecular genetic analysis for G6PD deficiency," National Education Commission of China, 1995
Molecular Surgeon Research Award, Department of Surgery, Baylor College of Medicine, 2005
Memberships and Professional Organizations
American Society of Human Genetics (ASHG), 2010-Present
Fellow of American College of Medical Genetics and Genomics (FACMG), 2010-Present
Association of Molecular Pathology (AMP), 2014-Present
Web Links
Selected Publications
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease
Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Aref-Eshghi E, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky RD, Muraresku CC, Peterson JT, Spinner NB, Wallace DC, Dulik MC, Falk MJ, Mol Genet Metab 135(1): 93-101, 2022, PMID:34969639
Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation
Patel T, Henrickson SE, Moser EK, Field NS, Maurer K, Dawany N, Conrad M, Bunin N, Freedman JL, Heimall J, Arnold DE, Wang J, Markowitz JE, Payne-Poff SB, Williams KW, Russo PA, Wherry EJ, Devoto M, Oliver P, Sullivan KE, Kelsen J, J Allergy Clin Immunol Pract 9(7): 2885-2893, 2021, PMID:33894394
Clinical and laboratory interpretation of mitochondrial mRNA
Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Hum Mutat, 2020
Interpretation of mitochondrial tRNA variants.
Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Genet Med, 2020
Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2
Kartvelishvili E, Tworowski D, Vernon H, Moor N, Wang J, Wong LJ, Chrzanowska-Lightowlers Z, Safro M. Protein Sci. 26(8): 1505-1516, 2017
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease
Tsai ACH, Hung YW, Harding C, Koeller DM, Wang J, Wong LJC. American Journal of Medical Genetics, Part A 173(9): 2500-2504, 2017
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome
Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. Clin Genet. 91(4): 634-639. doi: 10.1111/cge.12894. Epub 2017 Jan 5., 2017
Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing
Li J, Tang J, Feng Y, Xu M, Chen R, Zou X, Sui R, Chang EY, Lewis RA, Zhang VW, Wang J, Wong LC. J Mol Diagn. 18(6): 817-824, 2016.
Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis
Wang X, Feng Y, Li J, Zhang W, Wang J, Lewis RA, Wong LJ. PLoS One. 11(10): e0165405, 2016
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ. J Allergy Clin Immunol. 138(4): 1142-1151.e2, 2016
