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A framework for the investigation of rare genetic disorders in neuropsychiatry
Name
sanders_et_al_nature_medicine__2019_.pdf
Description
Accepted version
Size
6.08 MB
Format
Adobe PDF
Checksum (MD5)
daad0eeeadb8c8674899e5fa3f988309
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
Date Issued
September 2019
Journal
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
Abstract
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.
MIT Department
McGovern Institute for Brain Research at MIT
Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences
Terms of Use
Creative Commons Attribution-Noncommercial-Share Alike
Persistent DSpace Link
DOI of Published Version
http://dx.doi.org/10.1038/s41591-019-0581-5
