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Psychiatry and Behavioral Sciences
707 N. Broadway
Baltimore MD 21205
Molecular basis of neurological disorders
The Pevsner lab studies the molecular basis of childhood brain disorders. We focus on chromosomal abnormalities (measured with single nucleotide polymorphism or SNP arrays) as well as genetic variants (measured using whole genome, whole exome, or targeted sequencing). The lab specializes in bioinformatics approaches: we use computational tools to make progress in understanding disease, and we write software programs to facilitate our research. Our goals are to identify genes and proteins implicated in childhood disease, and to develop rational therapeutic strategies for treatment. We recently identified mutations in GNAQ (encoding a G protein alpha subunit) as the cause of both Sturge-Weber syndrome (a rare neurocutaneous disorder) and port-wine stains (a commonly occurring birthmark affecting 1:333 people). This discovery was accomplished through whole genome sequencing and targeted next-generation sequencing. The mutation is somatic, mosaic, and activating, and suggests a possible treatment based on modulating specific signaling pathways. Disease we currently study include: • autism spectrum disorder • Sturge-Weber syndrome • self-injury and intellectual disability • schizophrenia
Baugher JD, Baugher BD, Shirley MD, Pevsner J. Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method. BMC Genomics. 2013 May 31;14:367. doi: 10.1186/1471-2164-14-367.
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507.
Kondo MA, Tajinda K, Colantuoni C, Hiyama H, Seshadri S, Huang B, Pou S, Furukori K, Hookway C, Jaaro-Peled H, Kano SI, Matsuoka N, Harada K, Ni K, Pevsner J, Sawa A. Unique pharmacological actions of atypical neuroleptic quetiapine: possible role in cell cycle/fate control. Transl Psychiatry. 2013 Apr 2;3:e243. doi: 10.1038/tp.2013.19.
Stevens EL, Heckenberg G, Baugher JD, Roberson ED, Downey TJ, Pevsner J. Consanguinity in Centre d'Йtude du Polymorphisme Humain (CEPH) pedigrees. Eur J Hum Genet. 2012; 10.1038/ejhg.2011.266.
Shirley MD, Baugher JD, Stevens EL, Tang Z, Gerry N, Beiswanger CM, Berlin DS, Pevsner J. Chromosomal variation in lymphoblastoid cell lines. Human Mutation. 2012 10.1002/humu.22062.
Stevens EL, Baugher JD, Shirley MD, Frelin LP, Pevsner J. Unexpected relationships and inbreeding in HapMap phase III populations. PLoS One. 2012; 7(11):e49575.
Halper-Stromberg E, Frelin L, Ruczinski R, Scharpf R, Jie C, Carvalho B, Hao H, Hetrick K, Jedlicka A, Dziedzic A, Doheny K, Scott AF, Baylin S, Pevsner J, Spencer F, Irizarry RA. Performance assessment of copy number microarray platforms using a spike-in experiment. Bioinformatics. 2011; 27(8):1052-1060.
Stevens E, Heckenberg G, Roberson EDO, Baugher JD, Downey TJ, Pevsner J. Inference of relationships in population data using identity-by-descent and identity-by-state. PLoS Genetics. 2011; 7(9):e1002287.
Roberson EDO, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J. Genomic analysis of partial 21q monosomies with variable phenotypes. Eur. J. Human Genetics. 2010; 19(2):235-238.
Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991.
Roberson ED and Pevsner J. Visualization of shared genomic regions and meiotic recombination in high-density SNP data. PLoS ONE. 2009; 4(8):e6711.
Ting JC, Roberson ED, Currier DG, Pevsner J. Locations and patterns of meiotic recombination in two-generation pedigrees. BMC Med. Genet. 2009; 10(1):93.