Christina Gurnett
Professor of Neurology
Chief, Division of Neurology, Children's Hospital of Philadelphia
Department: Neurology
Contact information
3500 Civic Center Blvd
Philadelphia, PA 19104
Philadelphia, PA 19104
Education:
BS (Biology)
University of Notre Dame, Notre Dame, IN, 1991.
PhD (Physiology and Biophysics)
University of Iowa, Iowa City, IA, 1998.
MD (Doctorate of Medicine)
University of Iowa, Iowa City, IA, 1998.
BS (Biology)
University of Notre Dame, Notre Dame, IN, 1991.
PhD (Physiology and Biophysics)
University of Iowa, Iowa City, IA, 1998.
MD (Doctorate of Medicine)
University of Iowa, Iowa City, IA, 1998.
Post-Graduate Training
Pediatrics Residency, University of Iowa, Iowa City, IA, 1998-2000.
Pediatric Neurology Residency, Barnes-Jewish Hospital and St. Louis Children's Hospital Washington University Medical School, St. Louis, MO, 2000-2003.
Pediatric Epilepsy Fellowship, St. Louis Children's Hospital St. Louis, MO, 2003-2004.
Academic Medical Leadership Program for Physicians and Scientists, Barnes-Jewish Children's (BJC) Hospitals, 2017-2018.
Pediatrics Residency, University of Iowa, Iowa City, IA, 1998-2000.
Pediatric Neurology Residency, Barnes-Jewish Hospital and St. Louis Children's Hospital Washington University Medical School, St. Louis, MO, 2000-2003.
Pediatric Epilepsy Fellowship, St. Louis Children's Hospital St. Louis, MO, 2003-2004.
Academic Medical Leadership Program for Physicians and Scientists, Barnes-Jewish Children's (BJC) Hospitals, 2017-2018.
Certifications
American Board of Psychiatry and Neurology: Neurology with Special Qualification in Child Neurology, Certificate #11431, 2006.
American Board of Psychiatry and Neurology: Epilepsy Certification. Certificate #1501 , 2006.
Permanent linkAmerican Board of Psychiatry and Neurology: Neurology with Special Qualification in Child Neurology, Certificate #11431, 2006.
American Board of Psychiatry and Neurology: Epilepsy Certification. Certificate #1501 , 2006.
Description of Clinical Expertise
Dr. Gurnett is a trained clinical epileptologist with special expertise in rare genetic disorders and medically refractory epilepsy.Description of Research Expertise
Dr. Gurnett is a physician-scientist with expertise in neurogenetics, including gene discovery for arthrogryposis, clubfoot, scoliosis, and neurodevelopmental disabilities.Selected Publications
Pain E, Kapatel Y, Singh PK, Jones KL, Selvakumaran J, Malerba A, Lucchesi W, Rutherford T, Gurnett CA, Walker MC, Williams RSB: Energy metabolism, adenosine, and glutamate signaling reprogramming by decanoic acid in Glut1 disorder sydndrome. Epilepsia Open 11(3): 1036-1045, Jun 2026.Sepich DS, Gray RS, Ahituv N, Gurnett CA, Rios JJ, Solnica-Krezel L, Wise CA: The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis. Dis Model Mech 2026.
Galaz-Montoya CI, Lewis SA, Galindo MK, Cornejo P, Skidmore PT, Bisarad P, Magee H, Bontempo K, Keren B, Afenjar A, Skorvanek M, Zech M, Wentzensen IM, Gurnett CA, Chung WK, Bakhtiari S, Kruer MC: Expanding the phenotypic spectrum of the recurrent de novo FBXO31 p.Asp334Asn variant: evidence for a novel neurodevelopmental disorder (Kruer Syndrome). Clin Genet 2026.
Zerafati-Jahromi G, Oxman E, Hoang HD, Charng WL, Kotla T, Yuan W, Ishibashi K, Sebauoi S, Luedtke K, Winrow B, Ganetzky RD, Ruiz A, Manso-Basuz C, Spartaro N, Kannu P, Athey T, Peroutka C, Barnes C, Sidlow R, Anadiotis G, Magnussen K, Valenzuela I, Moles-Fernandez A, Berger S, Grant CL, Vilain E, Arnadottir GA, Sulem P, Sulem TS, Stefansson K, Massey S, Ginn N, Poduri A, D’Gama AM, Valentine R, Trowbridge SK, Murali CN, Fanciskovich R, Tran Y, Webb BD, Keppler-Noreuil KM, Hall AL, McGivern B, Monaghan KG, Guillen Sacoto MJ, Baldridge D, Silverman GA, Dahiya S, Turner TN, Schedl T, Corbin JG, Pak SC, Zohn IE, Gurnett CA. : Sequence variants in HECTD1 result in a variable neurodevelopmental disorder. Am J Hum Genet 112(3): 537-553, September 2025.
Callahan NC, Mahida S, Sveden A, Quinn M, Chopra M, Srivastava S, Brain Gene Registry Consortium: Expansion of the genotypic and phenotypic spectrum of SETD5 disorder using data from the national brain gene registry. Clin Genet 108(3): 279-291, September 2025.
Charng WL, Haller G, Whittle J, Nikolov M, Avery A, Morcuende J, Giampietro P, Raggio C, Miller N, Justice AE, Strande NT, Seeley M, Bodian DL, Wise CA, Sepich DS, Dobbs MB, Gurnett CA: Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis. J Med Genet 62(7), June 2025.
Cole JJ, Sellitto AD, Baratta LR, Heucker JB, Balls-Berry JJE, Gurnett CA.: Social determinants of genetic referral and completion rates among pediatric neurology patients. Pediatr Neurol 165: 78-86, April 2025.
Ng JK, Chen Y, Akinwe TM, Heins HB, Mehinovic E, Chang Y, Gutmann DH, Gurnett CA, Payne ZL, Manual JG, Karchin R, Turner TN: Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer. Cell Genome 5(4): 100807, April 2025.
Kaster L, Hillis E, Oh IY, Aravamuthan BR, Lanzotti CV, Vickstrom CR, Brain Gene Registry Consortium, Gurnett CA, Payne PRB, Gupta A.: Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models. J Neurodev Disord 17(1): 24, April 2025.
Cole JJ, Williams JP, Sellitto AD, Baratta LR, Heucker JB, Baldridge D, Kannampallil T, Gurnett CA, Balls-Berry JE: Association of social determinants of health with genetic test request and completion rates in children with neurologic disorders. Neurology 11(105): e210275, March 2025.