Our laboratory has three related, central areas of investigation: 1) Generation and characterization of ventricular zone-derived human neural stem cells from developmental disorders of the central nervous system such as Down Syndrome, 2) Genetic studies of inherited disorders of neural stem cell development and 3) Cellular and molecular mechanisms underlying neural stem cell development.
Pang T, Atefy R, Sheen V. Malformations of cortical development.Neurologist. 2008 May;14(3):181-91.
Esposito G, Imitola J, Lu J, De Filippis D, Scuderi C, Ganesh VS, Folkerth R, Hecht J, Shin S, Iuvone T, Chesnut J, Steardo L, Sheen V.Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury.Hum Mol Genet. 2008 Feb 1;17(3):440-57. Epub 2007 Nov 5.
Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V. Filamin B mutations cause chondrocyte defects in skeletal development. Hum Mol Genet. 2007 Jul 15;16(14):1661-75. Epub 2007 May 17.
Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins
GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J,
Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA. Filamin A mutations cause periventricular
heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25;64(2):254-62.
Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury S, Guerrini
R, Walsh CA, Human ARFGEF2 mutations implicate vesicle trafficking in neural progenitor proliferation and migration
in the human cerebral cortex. Nature Genetics, 2004 Jan; 36(1):69-76
External Recognition:
Alzheimer's Association Young Investigator Award 2008
Doris Duke Clinical Investigator Development Award 2007
Beckman Young Investigator Award 2005
Ellison Foundation Award 2006
Milton Award 2005
Grand Rounds speaker Vanderbilt University Department of Neurology, 2004
Grand Rounds speaker Duke University Department of Neurology, 2004
Invited Speaker, Catastrophic Epilepsies, American Epilepsy Society Meeting, 2004
Invited Speaker, Human Neural Precursors from Developmental Disorders, National Disease Research Interchange, 2005
Invited Speaker, Development of the cerebral cortex, Children's Neurobiological Solutions Foundation, 2005
Invited Speaker, American Society for Stereotactic and Functional Neurosurgery, 2006
Invited Speaker, Neurogenetics for the Practitioner NYU Medical School, 2006
Major Collaborative Activities:
Collaborations with BIDMC Department of Pathology
Collaborations with Brigham and Women's Hospital Department of Pathology
Collaborations with Children's Hospital Department of Pathology
