HOW CAN WE HELP YOU? Call 1-800-TRY-CHOP
In This Section
Joseph T. Glessner, PhD
Technical Director, Genetics Core Facility, Center for Applied Genomics
Dr. Glessner’s current research focuses on childhood neuropsychiatric and neurodevelopmental disorders along with the genetic architecture associated with them, including single nucleotide polymorphisms, single nucleotide variations, and copy number variations ascertained by genomic technologies.
Bio
Dr. Glessner’s research interest involves the development of new methods to identify genetic alterations and to characterize their significance in human developmental and neuropsychiatric disease (NPD), including copy number variations (CNV) detection and human disease association.
Using molecular cytogenetics methods, his work to date has focused on the detection of CNV and their impact in human disease, particularly NPD, and he has focused on the creating new software tools to explore such variation. He developed methods to delineate CNV from microarray intensity data, and that effort resulted in PennCNV and ParseCNV. These tools have had a significant impact in both human genetic research and genetic diagnostics, and have become an integral part of routine genetic analysis pipelines.
While most of Dr. Glessner’s research has been widely used in the field of molecular cytogenetics, he incorporated more sophisticated principles and superior resolution into this software development, and he believes that the methods developed for PennCNV were a starting point for the trajectory of these methods. He extended his microarray-based expertise into whole-genome and whole-transcriptome sequencing technologies, and contributed to his broader vision of understanding and ultimately assembling the structure of each genome with integrated transcriptome information as a routine analysis tool in human biology.
Education and Training
BS, University of the Sciences in Philadelphia (Bioinformatics), 2006
MS, University of the Sciences in Philadelphia (Bioinformatics), 2007
Titles and Academic Titles
Technical Director, Genetics Core Facility, Center for Applied Genomics
Professional Memberships
American Association for the Advancement of Science, 2012-
Professional Awards
MGH Executive Council on Research (ECOR) Fund for Medical Discovery Award, 2015
Publication Highlights
PubMed:
Glessner JT, Li J, Wang D, March M, Lima L, Desai A, Hadley D, Kao C, Gur RE, Cohen N, Sleiman PMA, Li Q, Hakonarson H, Janssen-CHOP Neuropsychiatric Genomics Working Group. Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. Genome Med. 2017 Nov; 9(1):106. PMID: 29191242
Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res. 2014 Oct; 115(10):884-896. PMID: 25205790
Glessner JT, Li J, Hakonarson H. ParseCNV integrative copy number variation association software with quality tracking. Nucleic Acids Res. 2013 Mar; 41(5):e64. PMID: 23293001
Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, Sleiman PM, Zhang H, Kim CE, Robison R, Lyon GJ, Flory JH, Bradfield JP, Imielinski M, Hou C, Frackelton EC, Chiavacci RM, Sakurai T, Rabin C, Middleton FA, Thomas KA, Garris M, Mentch F, Freitag CM, Steinhausen HC, Todorov AA, Reif A, Rothenberger A, Franke B, Mick EO, Roeyers H, Buitelaar J, Lesch KP, Banaschewski T, Ebstein RP, Mulas F, Oades RD, Sergeant J, Sonuga-Barke E, Renner TJ, Romanos M, Romanos J, Warnke A, Walitza S, Meyer J, Pálmason H, Seitz C, Loo SK, Smalley SL, Biederman J, Kent L, Asherson P, Anney RJ, Gaynor JW, Shaw P, Devoto M, White PS, Grant SF, Buxbaum JD, Rapoport JL, Williams NM, Nelson SF, Faraone SV, Hakonarson H. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet. 2011 Dec; 44(1):78-84. PMID: 22138692
Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 2009 May; 459(7248):569-573. PMID: 19404257; PMC2925224