Faculty

Xilma R Ortiz-Gonzalez, MD PhD

faculty photo
Assistant Professor of Neurology at the Children's Hospital of Philadelphia
Department: Neurology
Graduate Group Affiliations

Contact information
Children’s Hospital of Philadelphia, Division of Neurology & Center for Mitochondrial and Epigenomic Medicine
Philadelphia, PA 19104
Office: 215-590-1719
Fax: 215-590-1771
Education:
BS (Chemistry)
University of Puerto Rico, Cayey, 1997.
PhD (Neuroscience)
University of Minnesota, 2004.
MD (Medicine)
University of Minnesota Medical School, Minneapolis, 2006.
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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 encephalopathy

Selected Publications

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 under resubmission 2024.

Cuccurullo et al: Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants Epilepsia in print 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.

Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA.: Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med 24(11): doi: 10.1016/j.gim.2022.08.006, November 2022.

Dubbs H, Ortiz-Gonzalez X, Marsh ED.: Pathogenic variants in CASK: Expanding the genotype-phenotype correlations. Am J Med Genet A 188(8): 2617, September 2022 Notes: https://doi.org/10.1002/ajmg.a.62863.

Xilma Ortiz-Gonzalez: Media Coverage of neurogenetic disorders in Puerto Rican children NBC news Philadelphia December 2021 Notes: https://www.nbcphiladelphia.com/news/health/scientists-investigate-the-boricua-gene-impacting-puerto-rican-children/3065232/

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Last updated: 06/18/2024
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