A framework for the investigation of rare genetic disorders in neuropsychiatry
Author(s)
Sanders, Stephan J.; Sahin, Mustafa; Hostyk, Joseph; Thurm, Audrey; Jacquemont, Sebastien; Avillach, Paul; Douard, Elise; Martin, Christa L.; Modi, Meera E.; Moreno-De-Luca, Andres; Raznahan, Armin; Anticevic, Alan; Dolmetsch, Ricardo; Feng, Guoping; Geschwind, Daniel H.; Glahn, David C.; Goldstein, David B.; Ledbetter, David H.; Mulle, Jennifer G.; Pasca, Sergiu P.; Samaco, Rodney; Sebat, Jonathan; Pariser, Anne; Lehner, Thomas; Gur, Raquel E.; Bearden, Carrie E.; ... Show more Show less
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De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity, frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies and data sharing have revolutionized the identification and diagnosis of RGDs, presenting an opportunity to elucidate the mechanisms underlying neuropsychiatric disorders by investigating the pathophysiology of high-penetrance genetic risk factors. Here we seek out the best path forward for achieving these goals. We think future research will require consistent approaches across multiple RGDs and developmental stages, involving both the characterization of shared neuropsychiatric dimensions in humans and the identification of neurobiological commonalities in model systems. A coordinated and concerted effort across patients, families, researchers, clinicians and institutions, including rapid and broad sharing of data, is now needed to translate these discoveries into urgently needed therapies.
Date issued
2019-09Department
McGovern Institute for Brain Research at MIT; Massachusetts Institute of Technology. Department of Brain and Cognitive SciencesJournal
Nature Medicine
Publisher
Springer Science and Business Media LLC
Citation
Sanders, Stephan J. et al. "A framework for the investigation of rare genetic disorders in neuropsychiatry." Nature Medicine 25, 10 (September 2019): 1477–1487. © 2019 Springer Nature America, Inc.
Version: Author's final manuscript
ISSN
1078-8956
1546-170X