CSHL scientists part of team that discovers role of rare gene mutations in schizophrenia

“Although each mutation discovered may be individually rare,” they maintain, “collectively the total number of disease-causing variants in a gene [found to be] relevant to the disorder may explain a substantial number of cases.”

Dr. Sebat is currently applying the mutation-screening method in studies involving a greater number of patients and in other illnesses. Among other things, he seeks to determine whether spontaneous mutations play as significant a role in schizophrenia as they do in autism, as revealed by a study he co-authored a year ago with CSHL Professor Michael Wigler. (See: http://www.cshl.edu/public/releases/07_autism.html.)

“Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia” appears March 27 in Science online:10.1126/science.1155174. Its citation is as follows: Tom Walsh, Jon M. McClellan, Shane E. McCarthy, Anjene M. Addington, Sarah B. Pierce, Greg M. Cooper, Alex S. Nord, Mary Kusenda, Dheeraj Malhotra, Abishek Bhandari, Sunday M. Stray, Caitlin F. Rippey, Patricia Roccanova, Vlad Makarov, B. Lakshmi, Robert L. Findling, Linmarie Sikich, Thomas Stromberg, Barry Merriman, Nitin Gogtay, Philip Butler, Kristen Eckstrand, Laila Noory, Peter Gochman, Robert Long, Zugen Chen, Sean Davis1, Carl Baker, Evan E. Eichler, Paul S. Meltzer, Stanley F. Nelson, Andrew B. Singleton, Ming K. Lee, Judith L. Rapoport, Mary-Claire King, Jonathan Sebat.

The work in this study was supported by the Forrest C. and Frances H. Lattner Foundation, NARSAD, The National Institute of Mental Health and a gift from Ted and Vada Stanley. Just last year, as a result of the Stanleys’ support, CSHL established the Stanley Center for Psychiatric Genomics. (See: http://www.cshl.edu/public/releases/07_pgc.html)

Cold Spring Harbor Laboratory is a private, nonprofit research and education institution dedicated to exploring molecular biology and genetics in order to advance the understanding and ability to diagnose and treat cancers, neurological diseases and other causes of human suffering.

For more information, visit www.cshl.edu.