The Pevsner lab studies the molecular basis of childhood brain disorders. There are three main projects.

[1] Lead poisoning. Over 5% of all children in the United States have lead poisoning, adversely affecting behavior and intelligence. The molecular basis of lead effects in the brain are poorly understood. We have characterized the ability of lead to bind with high affinity to calcium-binding proteins such as synaptotagmin and annexins.

[2] Down syndrome. The consequences of having an extra copy of chromosome 21 are highly variable and include mental retardation and heart defects. We have demonstrated a chromosome dosage-dependent increase in transcript levels in brain, heart and blood cells, and have identified corresponding protein changes.

[3] Chromosomal abnormalities underlying mental retardation. In studying microdeletions and microduplications the lab has developed SNPscan, a web-based tool for the analysis and visualization of single nucleotide polymorphism (SNP) data. Additional bioinformatics resources developed by the Pevsner lab include DRAGON (a relational database for the annotation and visualization of gene expression data) and SNOMAD (Standardization and Normalization of Microarray Data).

Bioinformatics; genomics; childhood brain diseases; Down syndrome; lead poisoning

Teacher of the Year, Johns Hopkins University School of Medicine, 2000-2001 and 2005-2006

Professors’ Award for Distinction in Teaching in the Basic Sciences for 2002-2003

Ting J.C., Ye Y., Thomas G.H., Ruczinski I., Pevsner J. (2006) Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan. BMC Bioinformatics. 18;7(1):25

Mao R., Wang X., Spitznagel E.L. Jr., Frelin L.P., Ting J.C., Ding H., Kim J.W., Ruczinski I., Downey T.J., Pevsner J. (2005) Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart. Genome Biol. 6(13):R107.

Pevsner, J. (2005) Leonardo da Vinci’s studies of the brain and soul. Scientific American Mind, 16(1):84-91.

Yan Q., Hunt P.R., Frelin L., Vida T.A., Pevsner J., Bean A.J. (2005) mVps24p functions in EGF receptor sorting/trafficking from the early endosome. Exp. Cell Res. 304(1):265-273.

Fannjiang Y., Cheng W.C., Lee S.J., Qi B., Pevsner J., McCaffery J.M., Hill R.B., Basanez G., Hardwick J.M. (2004) Mitochondrial fission proteins regulate programmed cell death in yeast. Genes Dev. 18:2785-2797.

Mao, R., Zielke, C.L., Zielke, H.R., Pevsner, J. (2003) Global up-regulation of chromosome 21 gene expression in the developing Down Syndrome brain. Genomics, 81:457-467.

Colantuoni C., Henry, G., Zeger S., Pevsner J. (2002) SNOMAD (Standardization and Normalization of Microarray Data): Web-Accessible Gene Expression Data Analysis. Bioinformatics, 18:1540-1541.

Colantuoni C., Henry, G., Zeger S., and Pevsner J. (2002) Local mean normalization of microarray element signal intensities across an array surface: quality control and correction of spatially systematic artifacts. Biotechniques, 32:1316-20.

Colantuoni, C., Comi, A., Purcell, A.E., and Pevsner, J. (2002) The Use of Microarrays to Study Childhood Developmental Brain Disorders. Current Genomics, 3: 21-31.

Poole L.J., Yu Y., Kim P.S., Zheng Q.-Z., Pevsner J., and Hayward G.S. (2002) Altered patterns of cellular gene expression in dermal microvascular endothelial cells infected with Kaposi’s sarcoma associated herpesvirus. J. Virology, 76(7):3395-420.