AndrewCEdmondsonMDPhD

Pediatrics • Philadelphia, PA

Medical Genetics

Attending Physician

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Office
Children's Hospital of Philadelphia
34th Street and Civic Center Blvd
Philadelphia, PA 19104

Education & Training

Children's Hospital of PhiladelphiaPost-Doctoral Fellowship, Medical Genetics and Genomics, 2018 - 2020
Children's Hospital of PhiladelphiaFellowship, Clinical Biochemical Genetics, 2017 - 2018
Children's Hospital of PhiladelphiaResidency, Pediatrics/Medical Genetics and Genomics, 2013 - 2018
Children's Hospital of PhiladelphiaResidency, Pediatrics, 2013 - 2017
Perelman School of Medicine at the University of PennsylvaniaClass of 2013

Certifications & Licensure

NJ State Medical License 2022 - 2025
PA State Medical License 2017 - 2024
NC State Medical License 2020 - 2022
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Clinical Trials

Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Start of enrollment: 2012 Sep 01
Completed
Phase 2
Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation Start of enrollment: 2014 Jul 01
Completed
Not Applicable
Natural History Study Protocol in PMM2-CDG (CDG-Ia) Start of enrollment: 2018 Jan 08
Active, not recruiting
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation Start of enrollment: 2019 Oct 08
Recruiting
Acetazolamide Efficacy in Ataxia in PMM2-CDG Start of enrollment: 2021 Mar 17
Terminated
Phase 2, Phase 3
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Publications & Presentations

PubMed

Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinosi...
Lauren Brady, Rashmi Yadav, Andrew C Edmondson, Mark Tarnopolsky
American Journal of Medical Genetics. Part A. 2024-12-01
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.
Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken
Orphanet Journal of Rare Diseases. 2024-11-01
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Christina Lam, Fernando Scaglia, Gerard T Berry, Austin Larson, Kyriakie Sarafoglou
Molecular Genetics and Metabolism. 2024-08-01

Journal Articles

Correction: “Congenital Hyperinsulinism as the Presenting Feature of Kabuki Syndrome: Clinical and Molecular Characterization of 10 Affected Individuals”
Lindsay C Burrage, Sara Halbach, Paul Thornton, Andrew C Edmondson, Alejandro Diaz, Lisa Truong, Darrel Waggoner, Nature
Congenital Hyperinsulinism as the Presenting Feature of Kabuki Syndrome: Clinical and Molecular Characterization of 10 Affected Individuals
Alejandro Diaz, Darrel Waggoner, Lindsay C Burrage, Sara Halbach, Andrew C Edmondson, Lisa Truong, Paul Thornton, Nature

Press Mentions

New Genetic Marker Identified for Congenital Disorders of GlycosylationJuly 8th, 2021

Other Languages

Russian