Jonathan Santoro

Associate Professor of Clinical Pediatrics and Neurology

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Education and Training

  • Tulane University, New Orleans, LA — BS — 05/2007 — Neuroscience
  • Tulan University, New Orleans, LA — MS — 05/2008 — Neuroscience
  • Tulane University, New Orleans, LA — MD — 05/2013 — Medicine
  • Stanford University, Palo Alto, CA — 06/2015 — Pediatrics Residency
  • Stanford University, Palo Alto, CA — 06/2018 — Child Neurology Residency
  • Harvard University, Boston, MA — 06/2019 — Neuroimmunology Fellowship

Research Funding

  • Development and Validation of the Down Syndrome Regression Rating Scales
    NIH · R01HD113711 · Sep 20, 2023 – Aug 31, 2028 · Role: Co-Investigator
  • Mechanistic investigation of therapies for Down Syndrome Regression Disorder
    NIH · R61HD109748 · Sep 9, 2022 – Jun 30, 2024 · Role: Co-Investigator
  • Non-invasive biometric screening for cerebrovascular disorders in persons with Down syndrome.
    NIH · K23HL155898 · Feb 17, 2021 – Jan 31, 2026 · Role: Principal Investigator

Research Keywords

  • Down syndrome
  • Moyamoya disease
  • Multiple sclerosis
  • Autoimmune encephalitis
  • Down syndrome regression disorder
  • Neuromyelitis optica spectrum disorders
  • MOG spectrum disorders
  • Pediatric neuroimmunology

Publications

  • Immunotherapy responsive neuroinflammation in a child with FAS-associated death-domain mutation. Clin Genet. 2023 02; 103(2):252-253.. View in PubMed
  • The Genetic Landscape of Ischemic Stroke in Children – Current Knowledge and Future Perspectives. Semin Pediatr Neurol. 2022 12; 44:100999.. View in PubMed
  • Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases. J Neurol. 2022 Dec; 269(12):6512-6529.. View in PubMed
  • Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus. Front Neurol. 2022; 13:940175.. View in PubMed
  • Child Neurology: Neurodegenerative Encephalomyelopathy Associated With ACOX1 Gain-of-Function Variation Partially Responsive to Immunotherapy. Neurology. 2022 08 23; 99(8):341-346.. View in PubMed
  • Early Onset Diffusion Abnormalities in Refractory Headache Disorders. Front Neurol. 2022; 13:898219.. View in PubMed
  • Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder. J Neurodev Disord. 2022 06 03; 14(1):35.. View in PubMed
  • Prognostic indicators and outcomes of hospitalised COVID-19 patients with neurological disease: An individual patient data meta-analysis. PLoS One. 2022; 17(6):e0263595.. View in PubMed
  • Intracranial Vascular Tortuosity in an Infant With Dysmorphic Facies. Pediatr Neurol. 2022 06; 131:20-22.. View in PubMed
  • International Prevalence and Mechanisms of SARS-CoV-2 in Childhood Arterial Ischemic Stroke During the COVID-19 Pandemic. Stroke. 2022 08; 53(8):2497-2503.. View in PubMed