Abstract

? There is a critical shortage of research-oriented pediatric neurologists. The goal of our Neurological Sciences Academic Development Award (NSADA) is to help to address this shortage by training a new generation of pediatric neurologists equipped to carry out independent, innovative clinical and laboratory- based research centered on neurological diseases of childhood. Our program draws substance from recent progress in genomics, developmental biology, stem cell biology, and cellular, systems, and behavioral neurobiology, which open new avenues for research in the epilepsies, muscular dystrophies, and other prevalent neurological diseases of childhood. Our program will support one pediatric neurology research trainee per year for up to 3 years. Our training faculty includes 25 scientific mentors from the Children's Hospital of Philadelphia (CHOP) and the University of Pennsylvania School of Medicine (U of P). Each of these mentors has both an active research program in an area highly relevant to pediatric neurology, and a strong record of training clinician/investigators. The research opportunities we provide fall into two broad areas in which CHOP and the U of P have particular strengths: Epilepsy and Neuromuscular research. ? ? ?

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Physician Scientist Award (Program) (PSA) (K12)
Project #
5K12NS049453-03
Application #
7476396
Study Section
Special Emphasis Panel (ZNS1-SRB-M (37))
Program Officer
Hirtz, Deborah G
Project Start
2006-08-15
Project End
2011-07-31
Budget Start
2008-08-01
Budget End
2009-07-31
Support Year
3
Fiscal Year
2008
Total Cost
$482,760
Indirect Cost

  Institution

Name
Children's Hospital of Philadelphia
Department
Type
DUNS #
073757627
City
Philadelphia
State
PA
Country
United States
Zip Code
19104

  Publications

Hersh, David S; Shimony, Nir; Groves, Mari L et al. (2018) Pediatric cerebral venous sinus thrombosis or compression in the setting of skull fractures from blunt head trauma. J Neurosurg Pediatr 21:258-269
Ortiz-González, Xilma R; Tintos-Hernández, Jesus A; Keller, Kierstin et al. (2018) Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy. Ann Neurol 83:153-165
Wang, Chih-Chuan; Ortiz-González, Xilma R; Yum, Sabrina W et al. (2018) ?IV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. Am J Hum Genet 102:1158-1168
Domi, Trish; Vossough, Arastoo; Stence, Nicholas V et al. (2017) The Potential for Advanced Magnetic Resonance Neuroimaging Techniques in Pediatric Stroke Research. Pediatr Neurol 69:24-36
Charsar, Brittany A; Goldberg, Ethan M (2017) Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1. Pediatr Neurol 76:91-92
Uohara, Michael Y; Beslow, Lauren A; Billinghurst, Lori et al. (2017) Incidence of Recurrence in Posterior Circulation Childhood Arterial Ischemic Stroke. JAMA Neurol 74:316-323
Felling, Ryan J; Sun, Lisa R; Maxwell, Emily C et al. (2017) Pediatric arterial ischemic stroke: Epidemiology, risk factors, and management. Blood Cells Mol Dis 67:23-33
Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah et al. (2017) GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet 54:460-470
Shen, Dingding; Hernandez, Ciria C; Shen, Wangzhen et al. (2017) De novo GABRG2 mutations associated with epileptic encephalopathies. Brain 140:49-67
Chong, Jessica X; Caputo, Viviana; Phelps, Ian G et al. (2016) Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. Am J Hum Genet 98:772-81

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