- Disease Research
- Bioinformatics Courses
- Bioinformatics and Functional Genomics (textbook)
- Personnel and Contacts
- The Kennedy Krieger Institute
- Leonardo da Vinci
Welcome To The Pevsner Laboratory
Welcome to the laboratory of Jonathan Pevsner. Our lab studies the genetic basis of childhood brain disorders. We are located at the Kennedy Krieger Institute in Baltimore.
NEWS (May 8, 2013): Our laboratory recently reported the cause of Sturge-Weber syndrome (SWS), a rare neurocutaneous disorder. Patients with SWS also have a port-wine stain (PWS), a commonly occurring birthmark. Matt Shirley, a graduate student in the lab, analyzed six whole genome sequences from 3 individuals with SWS, comparing genomes derived from dissections of paired affected and unaffected regions of the body. This led to the identification of a mutation in GNAQ causing both SWS and PWS birthmarks.
- Click here to link to the publication in the New England Journal of Medicine
- Click here to view the announcement on the Sturge-Weber Foundation website
- See media coverage of this finding at CBS news, WebMD, and other sites.
NEWS (June 1, 2013): We have published a report on triPOD, a software tool written by graduate student Joseph Baugher (he is now a postdoctoral fellow at Johns Hopkins). triPOD analyzes SNP data from father/mother/child trios to identify mosaic abnormalities with extremely high sensitivity and specificity.