Xilma Ortiz-Gonzalez, MD, PhD, is an attending pediatric neurologist in the Division of Neurology at Children's Hospital of Philadelphia (CHOP). She specializes in neurogenetics, TBCK encephalopathy and mitochondrial disorders.
Dr. Ortiz-Gonzalez believes strongly in partnering with families to give their children the best possible care.
“We will work with you to better understand why your child may have neurodevelopmental differences and help translate genetic findings into useful information for your family,” she says.
Along with her work at CHOP, Dr. Ortiz-Gonzalez is an Assistant Professor of Neurology at the Perelman School of Medicine at the University of Pennsylvania.
Caring for children with genetic conditions that have affected their neurodevelopment is particularly fulfilling for Dr. Ortiz-Gonzalez. The genetics behind a problem can deliver insights into the processes that are fundamental to brain development, but more importantly, open possibilities for more effective treatments, she says.
While not caring for families, Dr. Ortiz-Gonzalez researches the role of mitochondria — structures within cells that produce energy — in inherited brain and nervous system disorders. She is also involved with research using human cell models to study rare neurodevelopmental syndromes.
“I see neurogenetics leading the efforts for personalized medicine in the future, when we can better tailor treatments to each child based on their genetic makeup,” Dr. Ortiz-Gonzalez says.
MD - University of Minnesota Medical School, Minneapolis, MN
Pediatrics - Children’s Hospital of Philadelphia, Philadelphia, PA
Child Neurology - Children’s Hospital of Philadelphia/ Hospital of the University of Pennsylvania
Pediatric Neurogenetics - Children’s Hospital of Philadelphia, Hospital of the University of Pennsylvania, Philadelphia, PA
Postdoctoral Research Fellowship T32 Trainee - Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA
Child NeurologyAmerican Board of Psychiatry and Neurology
PhD in Neuroscience - University of Minnesota Medical School, Minneapolis, MN
Assistant Professor of Neurology, Perelman School of Medicine at the University of Pennsylvania
Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ. Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ. PLoS One. 2019 Sep 3;14(9):e0221829. doi: 10.1371/journal.pone.0221829. eCollection 2019. PMID: 31479473
King MS, Thompson K, Hopton S, He L, Kunji ERS, Taylor RW, Ortiz-Gonzalez XR. Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy. Neurol Genet. 2018 Jul 20;4(4):e256. doi: 10.1212/NXG.0000000000000256. eCollection 2018 Aug.
Wang CC, Ortiz-González XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, Wierenga KJ, Rasband MN. βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. Am J Hum Genet. 2018 Jun 7;102(6):1158-1168. doi: 10.1016/j.ajhg.2018.04.012. Epub 2018 May 31.
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018 May 8. doi: 10.1007/s00439-018-1887-y. [Epub ahead of print]
Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13.
Mills JA, Herrera PS, Kaur M, Leo L, McEldrew D, Tintos-Hernandez JA, Rajagopalan R, Gagne A, Zhang Z, Ortiz-Gonzalez XR, Krantz ID. NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states. Sci Rep. 2018 Jan 18;8(1):1056. doi: 10.1038/s41598-018-19173-9.
Ortiz-González XR, Tintos-Hernández JA, Keller K, Li X, Foley AR, Bharucha-Goebel DX, Kessler SK, Yum SW, Crino PB, He M, Wallace DC, Bönnemann CG. Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy. Ann Neurol. 2018 Jan;83(1):153-165. doi: 10.1002/ana.25130.
Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M; Deciphering Developmental Disorders Study, Fliedner A, Gregor A, Sticht H, Zweier C. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. Am J Hum Genet. 2018 Jan 4;102(1):44-57. doi: 10.1016/j.ajhg.2017.11.008. Epub 2017 Dec 21.
Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL. De novo GABRG2 mutations associated with epileptic encephalopathies. Brain. 2017 Jan;140(1):49-67. doi: 10.1093/brain/aww272. Epub 2016 Nov 17.
Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ. GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. Am J Hum Genet. 2016 Oct 6;99(4):802-816. doi: 10.1016/j.ajhg.2016.07.013. Epub 2016 Sep 8.
Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, Flamini R, Joshi N, Levisohn PM, Marsh E, Nangia S, Narayanan V, Ortiz-Gonzalez XR, Patterson MC, Pearl PL, Porter B, Ramsey K, McGinnis EL, Taglialatela M, Tracy M, Tran B, Venkatesan C, Weckhuysen S, Cooper EC. KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet. 2016 Aug 22;2(5):e96. doi: 10.1212/NXG.0000000000000096. eCollection 2016 Oct.
Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z; University of Washington Center for Mendelian Genomics, Bamshad MJ, Ortiz-Gonzalez XR, Tartaglia M, Chopra M, Doherty D. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. Am J Hum Genet. 2016 Apr 7;98(4):772-81. doi: 10.1016/j.ajhg.2016.01.016. Epub 2016 Mar 31.
Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet. 2015;97(3):457-64
Strauss KA, DuBiner L, Simon M, Zaragoza M, Sengupta PP, Li P, Narula N, Dreike S, Platt J, Procaccio V, Ortiz-Gonzalez XR, Puffenberger EG, Kelley RI, Morton DH, Narula J, Wallace DC. Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup. Proc Natl Acad Sci U S A. 2013;110(9):3453-8
Ortiz-Gonzalez XR, Poduri A, Roberts CM, Sullivan JE, Marsh ED, Porter BE. Focal cortical dysplasia is more common in boys than in girls. Epilepsy Behav. 2013;27(1):121-3
Musiek ES, Lim MM, Yang G, Bauer AQ, Qi L, Lee Y, Roh JH, Ortiz-Gonzalez X, Dearborn JT, Culver JP, Herzog ED, Hogenesch JB, Wozniak DF, Dikranian K, Giasson BI, Weaver DR, Holtzman DM, Fitzgerald GA. Circadian clock proteins regulate neuronal redox homeostasis and neurodegeneration. J Clin Invest. 2013;123(12):5389-400
Ortiz-Gonzalez XR, Venneti S, Biegel JA, Rorke-Adams LB, Porter BE. Ganglioglioma arising from dysplastic cortex. Epilepsia. 2011;52(9):e106-8
Burns TC, Ortiz-Gonzalez XR, Gutierrez-Perez M, Keene CD, Sharda R, Demorest ZL, Jiang Y, Nelson-Holte M, Soriano M, Nakagawa Y, Luquin MR, Garcia-Verdugo JM, Prosper F, Low WC, Verfaillie CM. Thymidine analogs are transferred from prelabeled donor to host cells in the central nervous system after transplantation: a word of caution. Stem Cells. 2006;24(4):1121-7
Ortiz-Gonzalez XR, Keene CD, Verfaillie CM, Low WC. Neural induction of adult bone marrow and umbilical cord stem cells. Curr Neurovasc Res. 2004;1(3):207-13
Keene CD, Ortiz-Gonzalez XR*, Jiang Y, Largaespada DA, Verfaillie CM, Low WC. Neural differentiation and incorporation of bone marrow-derived multipotent adult progenitor cells after single cell transplantation into blastocyst stage mouse embryos. Cell Transplant. 2003;12(3):201-13
Jiang Y, Jahagirdar BN, Reinhardt RL, Schwartz RE, Keene CD, Ortiz-Gonzalez XR, Reyes M, Lenvik T, Lund T, Blackstad M, Du J, Aldrich S, Lisberg A, Low WC, Largaespada DA, Verfaillie CM. Pluripotency of mesenchymal stem cells derived from adult marrow. Nature. 2002;418(6893):41-9
Olson TH, Riedl MS, Vulchanova L, Ortiz-Gonzalez XR, Elde R. An acid sensing ion channel (ASIC) localizes to small primary afferent neurons in rats. Neuroreport. 1998;9(6):1109-13
Hamamoto DT, Ortiz-Gonzalez XR, Honda JM, Kajander KC. Intraplantar injection of hyaluronic acid at low pH into the rat hindpaw produces tissue acidosis and enhances withdrawal responses to mechanical stimuli. Pain. 1998;74(2-3):225-34
Dubbs, HA, Lewin, N, Marsh, ED, Licht, DJ & Ortiz-Gonzalez, XR (2017) Tubulinopathies: Expanding the Phenotype Associated with Mutations in TUBB2A beyond Epilepsy and Brain Malformations, submitted for AES meeting, December 2017
Ortiz-Gonzalez, X., Tintos-Hernandez, J.A….Wallace, DC, Bonnemann CG “Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy”, accepted to American Neurological Association Meeting, October 2017
Ortiz-Gonzalez, X., Tintos-Hernandez, J.A., Colas, C., and Wallace, D.C. (2016). ANT1-deficiency results in aberrant cardiac calcium homeostasis and sarcomeric disruption in human induced pluripotent stem cell derived cardiomyocytes. Mitochondrion, pp. 116-116.
Capucilli, P, Albenberg, L, Ortiz-González, XR. “A GI service inpatient admission leading to the diagnosis of Rett syndrome”, World Congress of Gastroenterology, Hepatalogy and Nutrition, Montreal October 2016
Ortiz-Gonzalez, X., Tintos, J.A., Colas, C., Prosser, B., Wallace D.C. (2015). IPSC-derived human cardiomyocytes recapitulate features of mitochondrial hypertrophic cardiomyopathy due to ANT1-deficiency, Mitochondrion 24, Page S45
Keene CD, Ortiz-Gonzalez XR, Jiang Y, Verfaillie CM and Low WC. “Therapeutic Applications of Bone Marrow–Derived Stem Cells in Neurologic Injury and Disease” chapter in Cell Therapy, Stem Cells and Brain Repair, edited by Sandberg et. al. Humana Press, Sept 2006, pp 163-198.
Ortiz-González XR. “Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy” David Smith Workshop on Malformations and Morphogenesis, Stowe, VT. August 2017.
Ortiz-González XR. “TBCK-Encephaloneuronopathy, a Novel Syndrome Associated with mTOR Over-inhibition and Aberrant Mitophagy”, UMDF Meeting, Alexandria, VA. June 2017.
Ortiz-González XR. “IPSC-derived Human Cardiomyocytes Recapitulate Features of Mitochondrial Cardiomyopathy Due to ANT1-deficiency” Department of Physiology, Johns Hopkins University, Baltimore MD. May 2017.
Ortiz-González XR. “IPSC-derived Human Cardiomyocytes Recapitulate Features of Mitochondrial Cardiomyopathy Due to ANT1-deficiency”, Penn Cardiovascular Institute. February 2017.
Ortiz-González XR. “A Tale of Two Islands: How TBCK Encephalopathy, a Novel Pediatric Neurodegenerative Syndrome in Children of Puerto Rican Descent Links the mTOR pathway and mitochondrial dysfunction in neurologic disease”, University of Puerto Rico, Medical Sciences Campus & Ponce School of Medicine. January 2017.
Ortiz-González XR. “A Tale of Two Islands: How TBCK Encephalopathy, A Novel Pediatric Neurodegenerative Syndrome In Children Of Puerto Rican Descent Links The mTOR Pathway and Mitochondrial Dysfunction in Neurologic Disease” Harold Amos Faculty Development Award National Meeting, Salt Lake City, UT. October 2016.
Ortiz-González XR. “TBCK Encephalopathy, A Novel Disease of mTOR Dysregulation and Mitochondrial Dysfunction? TriMAD, Philadelphia, PA. October 2016.
Ortiz-González XR. “ANT1-deficiency Results In Aberrant Cardiac Calcium Homeostasis and Sarcomeric Disruption In Human Induced Pluripotent Stem Cell Derived Cardiomyocytes” UMDF Annual Meeting, Seattle, WA. June 2016.
Ortiz-González XR. “Neurogenetics” and “Introduction to Mitochondrial Disease”, VIII Curso Internacional de Pediatría, Puebla, México. February 2016.
Ortiz-González XR. “Modeling Mitochondrial Disease Using Human Induced Pluripotent Stem Cells” NSADA Retreat, Child Neurology Society Meeting, Gaylor National Harbor, MD. October 2015.
Ortiz-González XR. “Modeling Mitochondrial Disease Using Human Induced Pluripotent Stem Cells”, Clinical Neuroscience Conference, CHOP, Philadelphia. January 2015.
2017, United Mitochondrial Disease Foundation- Kelsey Wright Award for Excellence in Mitochondrial Medicine
2016, United Mitochondrial Disease Foundation Abstract Oral Presentation Award
2015, Harold Amos Medical Faculty Development Award, RWJ Foundation
2015, CHOP Research Poster Day- Poster Presenter Award
2013-2016, Neurological Sciences Academic Development Award (NSADA), NIH
2002-2006, National Research Service Award (NRSA) Predoctoral Fellow, NINDS
2001-2004, Society for Neuroscience Minority Scholar Fellow
1995-1007, University of Puerto Rico-Cayey, Honor Studies Program
2011-present, United Mitochondrial Disease Foundation
2001-present, Society for Neuroscience
2017-present, American Neurological Association
2015-present, Child Neurology Society
2012-present, Mitochondrial Medicine Society
2008-present, American Academy of Neurology
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