Andrew C. Edmondson, MD, PhD

faculty photo
Assistant Professor of Pediatrics
Attending Physician, Division of Human Genetics and Metablolism, Children's Hospital of Philadelphia
Department: Pediatrics
Graduate Group Affiliations

Contact information
Children's Hospital of Philadelphia
Abrahmson Research Building, 1007C
3615 Civic Center Boulevard
Philadelphia, PA 19104
Office: 2155901177
Fax: 2155904297
Lab: 2674265422
Education:
BS (Microbiology and Russian, minors in Molecular Biology and Chemistry, University Honors)
Brigham Young University, 2004.
MD/PhD
University of Pennslyvania, 2013.
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Description of Clinical Expertise

I am a board-certified clinical biochemical geneticist and pediatrician in the Section of Metabolic Disease in the Division of Metabolism at the Children's Hospital of Philadelphia (CHOP). I evaluate and treat children with a variety of biochemical genetic disorders. I am also the Director of the CHOP Congenital Disorders of Glycosylation clinic, which focuses on the diagnosis and management of the hospital’s CDG patient population. The CHOP CDG clinic is recognized as Center of Excellence for CDG by CDG patient advocacy group, CDG CARE. As Director, my primary goal is to provide excellent evidence-based patient care for CDG patients.

Description of Research Expertise

As a committed physician-scientist, my research interests focus on rare neurometabolic genetic disorders known as congenital disorders of glycosylation (CDG). My specific passion lies in elucidating the molecular mechanisms of these diseases and translating that knowledge to improve patient clinical care. Although key proteins involved in neurotransmitter release, neuronal cell signaling, and cell migration events are glycosylated, our understanding of the role of glycosylation in these processes is rudimentary. The genetic basis of CDG provides an opportunity to identify the neurobiological functions of glycosylation using mouse models and glycoproteomics. I believe that an in-depth study of CDG pathophysiology will provide fundamental insights into critical aspects of human glycobiology leading to new discoveries with broad applications in human health. My research program focuses on elucidating the critical role of glycosylation in human neurological function, understanding the mechanisms of CDG pathophysiology, and developing novel therapeutics targeting glycosylation pathways.

Selected Publications

Priestley JRC, Adang LA, Williams SD, Lichter-Konecki U, Menello C, Engelhardt NM, DiPerna JC, DiBoscio B, Ahrens-Nicklas RC, Edmondson AC, Reynoso-Santos FJ, Ficicioglu C: Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania. Int J Neonatal Screen 2022.

Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM, Sheppard SE: Diagnostic Timeline and Clinical Efficacy of Telemedicine-Based Pediatric Genetics Care. Pediatrics 2022.

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, Chehadeh SE, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi R, Bhatti R, 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, He M, Edmondson AC, Izumi K: Expanding the Phenotypic Spectrum of ARCN1-related syndrome. Genet Med 2022.

Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E.: Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. Ann Neurol 90(6): 887-900, Dec 2021.

Tremblay-Laganière C, Maroofian R, Nguyen TTM, Karimiani EG, Kirmani S, Akbar F, Ibrahim S, Afroze B, Doosti M, Ashrafzadeh F, Babaei M, Efthymiou S, Christoforou M, Sultan T, Ladda RL, McLaughlin HM, Truty R, Mahida S, Cohen JS, Baranano K, Ismail FY, Patel MS, Lehman A, Edmondson AC, Nagy A, Walker MA, Mercimek-Andrews S, Maki Y, Sachdev R, Macintosh R, Palmer EE, Mancini GMS, Barakat TS, Steinfeld R, Rüsch CT, Stettner GM, Wagner M, Wortmann SB, Kini U, Brady AF, Stals KL, Ismayilova N, Ellard S, Bernardo D, Nugent K, McLean SD, Antonarakis SE, Houlden H, Kinoshita T, Campeau PM, Murakami Y.: PIGG variant pathogenicity assessment reveals characteristic features within 19 families. Genet Med 23(10): 1873-188, Oct 2021.

Johnsen C, Edmondson AC.: Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation. Clin Liver Dis (Hoboken) 18: 54-66, Sep 2021.

Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K.: Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? Mol Genet Metab 133(4): 397-399, Aug 2021.

Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK.: ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. J Inherit Metab Dis 44(4): 1001-1012, Jul 2021.

Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A; CAUSES Study, Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM.: Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. Am J Hum Genet 108: 1342-1349, Jul 2021.

Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA; University of Washington Center for Mendelian Genomics (UW-CMG), Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C.: Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. J Inherit Metab Dis 44(4): 987-1000, Jul 2021.

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Last updated: 05/08/2022
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