Navigate Up
Sign In
BCMBJHU SOM

Faculty & Research

​​​
​​​

Jonathan Pevsner

Department Affiliation Primary: Psychiatry and Behavioral Sciences
Secondary: Neuroscience
RankProfessor
Phone Numbers(443) 923-2686
Fax: (443) 923-2675
Emailpevsner@kennedykrieger.org
School of Medicine Address422 JFK
707 N. Broadway
Baltimore MD 21205
Link to Lab Homepage
Jonathan Pevsner

Research Topic: 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

Publications:

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.
PubMed Reference

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.
PubMed Reference

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.
PubMed Reference

Stevens EL, Heckenberg G, Baugher JD, Roberson ED, Downey TJ, Pevsner J. Consanguinity in Centre d'Étude du Polymorphisme Humain (CEPH) pedigrees. Eur J Hum Genet. 2012; 10.1038/ejhg.2011.266.
PubMed Reference 
 
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.
PubMed Reference

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.
PubMed Reference 
 
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.
PubMed Reference 
 
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.
PubMed Reference

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.
PubMed Reference 
 
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.
PubMed Reference

Roberson ED and Pevsner J. Visualization of shared genomic regions and meiotic recombination in high-density SNP data. PLoS ONE. 2009; 4(8):e6711.
PubMed Reference
 
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.
PubMed Reference
​​​​​​​