Xilma Ortiz-Gonzalez, MD, PhD

Xilma Ortiz-Gonzalez, MD, PhD

Xilma Ortiz-Gonzalez, MD, PhD, is a pediatric neurologist in the Division of Neurology at Children's Hospital of Philadelphia.

Areas of Expertise: Neurogenetics, TBCK encephalopathy, Mitochondrial Disorders
Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Medical School

MD - University of Minnesota Medical School, Minneapolis, MN

Residency

Pediatrics - Children’s Hospital of Philadelphia, Philadelphia, PA
Child Neurology - Children’s Hospital of Philadelphia/ Hospital of the University of Pennsylvania

Fellowship

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

Board Certification

Child Neurology
Psychiatry and Neurology

Graduate Degree

PhD in Neuroscience - University of Minnesota Medical School, Minneapolis, MN

Titles and Academic Titles

Attending Neurologist

Assistant Professor of Neurology, Perelman School of Medicine at the University of Pennsylvania

Departments and Services

Publications

Papers

2018

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.

2017

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.

2016

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.

2015

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

2013

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

2011

Ortiz-Gonzalez XR, Venneti S, Biegel JA, Rorke-Adams LB, Porter BE. Ganglioglioma arising from dysplastic cortex. Epilepsia. 2011;52(9):e106-8

2006

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

2004

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

2003

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

2002

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

1998

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 

Abstracts

2017

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

2016

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

2015

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

Books

Chapters

2006

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.

Posters and Presentations

Invited Lectures

2017

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.

2016

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.

2015

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.

Awards and Honors

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

Leadership and Memberships

Memberships in Professional Organizations

International

2011-present, United Mitochondrial Disease Foundation

2001-present, Society for Neuroscience

National

2017-present, American Neurological Association

2015-present, Child Neurology Society

2012-present, Mitochondrial Medicine Society

2008-present, American Academy of Neurology