Program 
Abstract
Chromosomal Abnormalities
Underlying Mental Retardation
 
Jonathan Pevsner, Ph.D.
 

Mental retardation affects 2-3% of the U.S. population. It is defined by broad criteria including significantly subaverage intelligence, onset by age 18, and impaired function in a group of adaptive skills. Down syndrome (DS), caused by a trisomy of chromosome 21, is the most common genetic cause of mental retardation. We have measured the effects of trisomy 21 on transcription and translation, based on studies of gene and protein expression in the developing brain and heart. In a parallel approach, we have analyzed chromosomal abnormalities underlying mental retardation and other disorders. In particular we have identified chromosomal anomalies such as microdeletions and microduplications in Down syndrome and other mental retardation cases through the analysis of single nucleotide polymorphisms (SNPs). We developed SNPscan and SNPtrio, web-accessible tools to analyze and visualize chromosomal abnormalities from SNP data.
Biosketch
Jonathan Pevsner, Ph.D.

Jonathan Pevsner received an undergraduate degree in Psychology from Haverford College and his Ph.D. in the Dept. of Pharmacology and Molecular Sciences at the Johns Hopkins School of Medicine. He pursued postdoctoral training at the Stanford University School of Medicine in the Dept. of Molecular and Cellular Physiology. In 1995 he joined the faculty of the Kennedy Krieger Institute (Dept. of Neurology) and the Johns Hopkins School of Medicine (Dept. of Neuroscience). His lab studies the molecular basis of childhood brain disorders and has developed bioinformatics tools for data analysis including DRAGON, SNOMAD, SNPscan, and SNPtrio. Dr. Pevsner is author of a textbook, Bioinformatics and Functional Genomics (2003). He was awarded Teacher of the Year (2001 and 2005) and the Professors’ Award for Excellence in Teaching (2003) at the Johns Hopkins School of Medicine.