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Pevsner Lab The Pevsner Lab Disease Research Autism Down Syndrome Schizophrenia Sturge Weber Syndrome Software DRAGON SNOMAD SNPduo SNPtrio SNPscan triPOD kcoeff pediSNP Bioinformatics and Functional Genomics (textbook) Publications Autism and Rett Syndrome Bioinformatics and Genomics Gene Expression in Human Disease Intracelluler Trafficking Lead Poisoning Leonardo Other 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. Somatic mosaicism in disease: Sturge-Weber syndrome In 2013 our laboratory reported the cause of Sturge-Weber syndrome (SWS), a rare neurocutaneous disorder. Patients with SWS also have a port-wine birthmark (PWB) that occurs in about 1:300 people. Matt Shirley , then a graduate student in the lab and now a scientist at Novartis, analyzed whole genome sequences and identified a mutation in GNAQ causing both SWS and PWS birthmarks. Click here to link to the publication in the New England Journal of Medicine See media coverage of this finding at CBS news , WebMD , and other sites. Since 2016 I have been Chief Scientific Officer of the Sturge-Weber Foundation (SWF). I’m honored and excited to take on this role, and am doing 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 . Somatic mosaicism in disease: bipolar disorder Our lab is part of the Brain Somatic Mosaicism Network (BSMN) sponsored by the National Institutes of Mental Health (NIMH) at NIH. In 2017 the BSMN published a paper in Science ( PubMed ) describing our mission to identify the nature and extent of mosaic variation in neuropsychiatric disease. We are characterizing mosaicism in bipolar disorder. We also study germline variation in bipolar disorder. Congratulations to Ikeoluwa Adeshina, a graduate student in the Human Genetics program at Johns Hopkins. In August 2018 Ike received an R36 grant from the NIMH to study the genomic basis of pediatric bipolar disorder. Somatic mosaicism in disease: autism spectrum disorder 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 since received his Ph.D. from the Johns Hopkins School of Medicine and works at Sentieon, a company that produces cutting-edge software for the analysis of next-generation sequence data. Self-injurious behavior (SIB) 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 are studying the genomes of patients with SIB, in collaboration with behavioral psychologists and clinicians. We published a paper on genomic abnormalities in a series of patients who have SIB and ASD. 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. Bioinformatics and Functional Genomics I wrote a textbook, Bioinformatics and Functional Genomics (third edition, 2015). Please have a look at the accompanying website that offers many resources. These include: Powerpoints that teachers may modify and use About 800 "weblinks" that readers of the book may use to easily reach sites referred to in the book "Web documents" that let you access data referred to in the book Several hundred pages of solutions to problems I am one of four faculty who lead the annual Practical Genomics workshop (offered at Johns Hopkins annually since 2011). The next workshop will likely be held in June 2019. See here . Leonardo da Vinci May 2nd, 2019 is the 500th anniversary of Leonardo’s death. Please see The Lancet for "Leonardo da Vinci’s studies of the brain" by J. Pevsner ( link ). I will lecture at Mountcastle Auditorium (Johns Hopkins Medical Institutions) on June 12, 2019. Article on the meaning of Leonardo published in Scientific American, May 2nd, 2019 ( link ). Videocast of radio interview by Tom Hall on WYPR (May 1, 2019) ( link ). Powered by...