Jonathan Pevsner, Ph.D.
The Pevsner lab studies the molecular basis of childhood brain disorders. There are three main projects.
- 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.
- 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.
- 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).