faculty photo

Xilma R Ortiz-Gonzalez, MD PhD

Assistant 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

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
Graduate Group Affiliations
Education:
BS (Chemistry)
University of Puerto Rico, Cayey, 1997.
PhD (Neuroscience)
University of Minnesota, 2004.
MD (Medicine)
University of Minnesota Medical School, Minneapolis, 2006.
Post-Graduate Training
Pediatrics Resident, Children's Hospital of Philadelphia, 2006-2008.
Child Neurology Resident, Children's Hospital of Philadelphia, 2008-2011.
Pediatrics Neurogenetics Fellow, Children's Hospital of Philadelphia, 2011-2012.
T-32 Postdoctoral Research Fellow , Children's Hospital of Philadelphia, Center for Epigenomic and Mitochondrial Medicine, 2011-2013.
Certifications
American Board of Psychiatry and Neurology/Neurology with Special Qualification in Child Neurology, 2011.
Permanent link
 
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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

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/

Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, et al.: PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. Neurol Genet 7(6): e613, November 2021.

Tintos-Hernández JA, Santana A, Keller KN, Ortiz-González XR.: Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy. Brain Commun 3(4): fcab215, September 2021.

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Last updated: 02/20/2024
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