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 (September, 2016): We have assessed the role of somatic mosaic variation in autism spectrum disorder (ASD). Based on the analysis of ~9,000 whole exome sequences we find that postzygotic, mosaic mutations contribute to ~5% of simplex ASD diagnoses. This work was published in PLoS Genetics (PubMed link here, PDF here). You can also read a short feature in Science here. The authors of this study are Freed and Pevsner; Don Freed has now graduated with his Ph.D. from the Johns Hopkins School of Medicine and has started work at Sentieon.

NEWS (August 14, 2016): I have been named Chief Scientific Officer of the Sturge-Weber Foundation (SWF). I'm honored and excited to take on this new role, and will do all I can to further its mission--"to improve the quality of life and care for people with Sturge-Weber syndrome and associated Port Wine Birthmark conditions through collaborative education, advocacy, research and friendly support." I welcome any researchers, family members or others to get in touch by email. You can read the SWF announcement here and see a press release here.

NEWS (August 14, 2016): We recently published a paper on genomic abnormalities in a series of patients who have self-injurious behavior (SIB) and autism spectrum disorder (ASD). SIB is a serious behavioral disorder exhibited by many individuals with severely disabling intellectual disability. It is characterized by production of physical injury to the individual's own body. We report chromosomal abnormalities such as a deletion adjacent to a serotonin receptor gene on the X chromosome. You can read the paper here from the journal PLoS ONE.

NEWS (June 27, 2015): The third edition of Bioinformatics and Functional Genomics is now in press. We'll launch the brand-new website at the time of publication. The book is almost entirely updated with a new chapter on next-generation sequencing, and it's filled with gentle introductions to R and a variety of command-line software. Look for the e-book in August and the hard copy soon after.

NEWS (June 27, 2015): We welcome several new people to the lab. Alexis Norris is a postdoctoral fellow who earned her Ph.D. in the Cellular and Molecular Medicine program at the Johns Hopkins School of Medicine. Welcome to Shruthi Bandyadkan who is currently getting her Master's degree in Biotechnology at Johns Hopkins! We also welcome summer students Morgan Marc (undergraduate at Johns Hopkins University), John Fissel (rotating from the Pathobiology graduate program), and high school students Grant Fisher (all the way from Texas) and Issy Newkirk.

NEWS (May 22, 2015): Jonathan gave the keynote speech for commencement at Johns Hopkins University (Krieger School of Arts & Sciences, Master's Degree ceremony). Congratulations to all the graduates! The speech was on genomics and Leonardo, and there were 1500 people in attendance. Click here to view.

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.

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.