Amy C. Goldstein, M.D.
Professor of Clinical Pediatrics (Human Genetics)
Core Faculty, The Center of Mitochondrial and Epigenomic Medicine (CMEM), Children’s Hospital of Philadelphia Research Institute
Fellowship Co-Director, Mitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia
Department: Pediatrics
Contact information
Children’s Hospital of Philadelphia
Division of Human Genetics
Department of Pediatrics
Clinical HUB for Collaboration
3500 Civic Center Blvd.
12th Floor
Philadelphia, PA 19104
Division of Human Genetics
Department of Pediatrics
Clinical HUB for Collaboration
3500 Civic Center Blvd.
12th Floor
Philadelphia, PA 19104
Email:
goldsteina@chop.edu
goldsteina@chop.edu
Education:
B.S. (Biology, Psychology)
Syracuse University, 1988.
M.D. (Medicine)
University of Pittsburgh , 1996.
Permanent linkB.S. (Biology, Psychology)
Syracuse University, 1988.
M.D. (Medicine)
University of Pittsburgh , 1996.
Selected Publications
Morganroth J, Ljungberg L, Goldstein A, Kallish S, Asher SB, Quinn C, Price RS, Karam C. : Pearls and Oy-sters: Case Report of a Patient With Adult-Onset Thymidine Kinase Gene (TK2) Deficiency. Neurology. Aug 2023.Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M.: MMPOWER-3 Trial Investigators. Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. Neurology. June 2023.
McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B; NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel; Alves CAPF, Ardissone A, Bai R, de Barcelos IP, Bertini E, Bluske K, Christodoulou J, Clause AR, Copeland WC, Diaz GA, Diodato D, Dulik MC, Enns G, Feigenbaum A, Fratter C, Ghezzi D, Goldstein A, Gropman A, Haas R, Karaa A, Koenig MK, Monteleone B, Parikh S, Duenas BP, Rajkumar R, Saada A, Saneto RP, Sergeant K, Shoffner J, Smith C, Stanley C, Thiffault I, Thorburn D, Walker M, Wallace D, Wong LJ, Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S. : Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum. Ann Neurol. May 2023.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC. : MELAS: Phenotype Classification into Classic-versus-Atypical Presentations. AJNR Am J Neuroradiol. 44(5): 602-610. May 2023.
Towheed A, Goldstein AC.: Genetics of Mitochondrial Cardiomyopathy. Current Cardiovascular Risk Reports. 17: Feb 2023.
65. Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA; Undiagnosed Diseases Network, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. : A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. May 2022
Verma M, Francis L, Lizama BN, Callio J, Fricklas G, Wang KZQ, Kaufman BA, D'Aiuto L, Stolz DB, Watkins SC, Nimgaonkar VL, Soto-Gutierrez A, Goldstein A, Chu CT. : iPSC-Derived Neurons from Patients with POLG Mutations Exhibit Decreased Mitochondrial Content and Dendrite Simplification. Am J Pathol. 22, Nov 2022.
Li R, Tang H, Burns JC, Hopkins BT, Le Coz C, Zhang B, de Barcelos IP, Romberg N, Goldstein AC, Banwell BL, Luning Prak ET, Mingueneau M, Bar-Or A: BTK inhibition limits B-cell-T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy. Acta Neuropathol 143(4): 505-521, Apr 2022 Notes: doi: 10.1007/s00401-022-02411-w. Epub 2022 Mar 18.
Wilcox NS, Prenner SB, Cevasco M, Condit C, Goldstein A, Peterson JT, Tondi Resta I, Palmer M, Lal P, Owens AT, Pieretti J, Drivas TG, Reza N: End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants. Circ Genom Precis Med 15(2): e003559, Apr 2022 Notes: doi: 10.1161/CIRCGEN.121.003559. Epub 2022 Feb 4.
Tinker RJ, Falk MJ, Goldstein A, George-Sankoh I, Xiao R, Adang L, Ganetzky R: Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis. Mol Genet Metab 135(4): 342-349, Apr 2022 Notes: doi: 10.1016/j.ymgme.2022.02.006. Epub 2022 Feb 19.