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Andrew Edmondson, MD, PhD
Attending Physician
Dr. Edmondson is an attending physician with the Metabolic Disease Program and the Division of Human Genetics at CHOP, and an assistant professor of Pediatrics in the Perelman School of Medicine at the University of Pennsylvania. His research focuses on the study of glycosylation in the brain.
Education and Training
BS, Brigham Young University (Microbiology and Russian, Minors in Molecular Biology and Chemistry, University Honors), 2004
MD/PhD, University Of Pennsylvania (Cell And Molecular Biology), 2013
Residency, Children’s Hospital of Philadelphia (Pediatrics/Genetics)
Fellowship, Children’s Hospital of Philadelphia (Clinical Biochemical Genetics)
Postdoctoral Research Fellow, Children’s Hospital of Philadelphia and University of Pennsylvania
Titles and Academic Titles
Attending Physician
Assistant Professor of Pediatrics
Professional Memberships
American Academy of Pediatrics, 2013-
American Board of Pediatrics, Diplomate, 2017-
American Board of Medical Genetics and Genomics, Clinical Genetics and Genomics, Diplomate, 2017
Professional Awards
2016, Scholarship, Society for Inherited Metabolic Diseases, North American Metabolic Academy
2012, George W. Householder, III Memorial Prize for original and meritorious work in the area of basic or clinical cardiovascular research, Perelman School of Medicine, University of Pennsylvania
2011, Tom Kadesch Prize in Genetic Research, University of Pennsylvania, Department of Genetics
2009, Finalist, Trainee Award in Pre-doctoral–Translational Research, American Society of Human Genetic
2009, Holmes Award for Bench Research, University of Pennsylvania Department of Medicine
2008-2011, National Heart Lung and Blood Institute (F30 Ruth L. Kirschstein National Research Service Award for Individual Predoctoral MD/PhD Fellows)
2008, American Heart Association Predoctoral Fellowship, Great Rivers Affiliate
2008, Workshop for Clinical Investigators on the Genetics of Complex Disorders, Broad Institute of Harvard and MIT
2004, Magna Cum Laude, Brigham Young University
Publication Highlights
Alharbi H, Daniel EJP, Thies J, Chang I, Goldner DL, Ng BG, Witters P, Aqul A, Velez-Bartolomei F, Enns GM, Hsu E, Kichula E, Lee E, Lourenco C, Poskanzer SA, Rasmussen S, Saarela K, Wang YM, Raymond KM, Schultz MJ, Freeze HH, Lam C, Edmondson AC, He M. Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association. J Inherit Metab Dis. 2023 Jan; PMID: 36651831
Albokhari D, Ng BG, Guberinic A, Daniel EJP, Engelhardt NM, Barone R, Fiumara A, Garavelli L, Trimarchi G, Wolfe L, Raymond KM, Morava E, He M, Freeze HH, Lam C, Edmondson AC. ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines. J Inherit Metab Dis. 2022 Sep; 45(5): 969-980. PMID: 35716054
Geiculescu I, Dranove J, Cosper G, Edmondson AC, Morava-Kozicz E, Carter LB. A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants. Am J Med Genet A. 2022 Aug; 188(8): 2438-2442. PMID: 35665995
Francisco R, Brasil S, Pascoal C, Edmondson AC, Jaeken J, Videira PA, de Freitas C, Ferreira VDR, Marques-da-Silva D. A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation. Int J Environ Res Public Health. 2022 Jun; 19(11): 6829. PubMed PMID: 35682409
Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Stong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K. Expanding the phenotypic spectrum of ARCN1-related syndrome. Genet Med. 2022 Jun; 24(6): 1227-1237. PubMed PMID: 35300924