Xilma R Ortiz-Gonzalez, MD PhD
Associate Professor of Neurology at the Children's Hospital of Philadelphia
Associate Director, Clinical Neurosciences Training Program, Perelman School of Medicine, University of Pennsylvania
Co-Director, Cell Biology Research Affinity Group, CHOP
Department: Neurology
Graduate Group Affiliations
Contact information
Children’s Hospital of Philadelphia, Division of Neurology & Center for Mitochondrial and Epigenomic Medicine
Philadelphia, PA 19104
Philadelphia, PA 19104
Office: 215-590-1719
Fax: 215-590-1771
Fax: 215-590-1771
Publications
Links
Search PubMed for articles
TBCK Research page
Dr Ortiz-Gonzalez google scholar page
TBCK Boricua paper news coverage
Media Coverage of neurogenetic disorders in Puerto Rican children
Ortiz-Gonzalez Lab page
Dr Ortiz-Gonzalez CHOP Profile
Search PubMed for articles
TBCK Research page
Dr Ortiz-Gonzalez google scholar page
TBCK Boricua paper news coverage
Media Coverage of neurogenetic disorders in Puerto Rican children
Ortiz-Gonzalez Lab page
Dr Ortiz-Gonzalez CHOP Profile
Education:
BS (Chemistry)
University of Puerto Rico, Cayey, 1997.
PhD (Neuroscience)
University of Minnesota, 2004.
MD (Medicine)
University of Minnesota Medical School, Minneapolis, 2006.
Permanent linkBS (Chemistry)
University of Puerto Rico, Cayey, 1997.
PhD (Neuroscience)
University of Minnesota, 2004.
MD (Medicine)
University of Minnesota Medical School, Minneapolis, 2006.
Description of Research Expertise
Research Interests: The Ortiz-Gonzalez lab is interested in pediatric neurodegenerative disorders and how these rare genetic disorders inform our knowledge of neurobiology and pathways critical for maintaining brain health. We focus on the role mitochondrial dysfunction in neurodegenerative phenotypes.Key words: Mitochondria, induced pluripotent stem cells, neurodegeneration
Research techniques: model novel human disease genes, patient-derived IPSC models, zebrafish model, mitochondrial function assays, confocal live imaging
Description of Clinical Expertise
Pediatric Neurogenetics, Mitochondrial Disease, TBCK encephalopathySelected Publications
Ortiz-Gonzalez X, Dubbs H, Keller K, Durham E.: TBCK-Related Neurodevelopmental Disorder. GeneReviews(®) June 2025.Hagenauer MH, David Redish A, Schiller D, Bigos KL, Flagel S, Rodriguez A, Parker Z, O'Connor A, Ortiz-Gonzalez X, Murphy D, Leeson R; Community for Rigor.: Promoting Open Discussions of Scientific Failure within the Annual Society for Neuroscience Conference. eNeuro 12: ENEURO, Mar 2025.
Flores-Mendez M, Tintos-Hernández JA, Ramos-Rodriguez L, Miles L, Lo TY, Song Y, Ortiz-González XR.: TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons. bioRxiv Mar 2025.
Marco Flores-Mendez, Laura Ohl, Thomas Roule, Yijing Zhou, Jesus A Tintos-Hernández, Kelsey Walsh, Xilma R Ortiz-González, Naiara Akizu: IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency. EMBO reports 25(9): 3990-4012. September 2024.
Cuccurullo C, Cerulli Irelli E, Ugga L, Riva A, D'Amico A, Cabet S, Lesca G, Bilo L, Zara F, Iliescu C, Barca D, Fung F, Helbig K, Ortiz-Gonzalez X, Schelhaas HJ, Willemsen MH, van der Linden I, Canafoglia L, Courage C, Gommaraschi S, Gonzalez-Alegre P, Bardakjian T, Syrbe S, Schuler E, Lemke JR, Vari S, Roende G, Bak M, Huq M, Powis Z, Johannesen KM, Hammer TB, Møller RS, Rabin R, Pappas J, Zupanc ML, Zadeh N, Cohen J, Naidu S, Krey I, Saneto R, Thies J, Licchetta L, Tinuper P, Bisulli F, Minardi R, Bayat A, Villeneuve N, Molinari F, Salimi Dafsari H, Moller B, Le Roux M, Houdayer C, Vecchi M, Mammi I, Fiorini E, Proietti J, Ferri S, Cantalupo G, Battaglia DI, Gambardella ML, Contaldo I, Brogna C, Trivisano M, De Dominicis A, Bova SM, Gardella E, Striano P, Coppola A.: Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants. Epilepsia 65(9): 2728-2750, Jul 2024.
Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR.: Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Neuroferritinopathy. HGG Adv 4(4): doi: 10.1016/j.xhgg.2023.100236, September 2023.
Jesus A Tintos-Hernandez, Charis Ma, Holly Dubbs, Cesar A Alves, Francesca Bartolini and Xilma R Ortiz-Gonzalez: A novel TUBB2A variant associated with pediatric neurodegeneration links microtubule stability to mitochondrial function Euromit 2023- International Meeting on Mitochondrial Pathology June 2023.
Brimble E, Reyes KG, Kuhathaas K, Devinsky O, Ruzhnikov MRZ, Ortiz-Gonzalez XR, Scheffer I, Bahi-Buisson N, Olson H; FOXG1 Research Foundation.: Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry. Orphanet J Rare Dis 18: 149, June 2023.
Marco Flores-Mendez, Jesus A. Tintos-Hernández, Xilma R. Ortiz-González: Mitochondrial dysfunction due to mRNA transport defects as a mechanism of neurodegeneration? Unraveling the role of TBCK in a human neuronal model. Euromit 2023- International Meeting on Mitochondrial Pathology June 2023.
Jacqueline Aker: Understanding Rare Epilepsies from the Inside Out- Feature story featuring Dr Ortiz-Gonzalez. Epilepsy Foundation Quarterly Magazine. Epilepsy Foundation, April 2023 Notes: https://www.epilepsy.com/sites/default/files/2023-04/Foundation_Quarterly_Spring_2023_4.pdf.