| Literature DB >> 31548702 |
Stephan J Sanders1, Mustafa Sahin2, Joseph Hostyk3, Audrey Thurm4, Sebastien Jacquemont5, Paul Avillach6, Elise Douard5, Christa L Martin7, Meera E Modi2, Andres Moreno-De-Luca7, Armin Raznahan4, Alan Anticevic8,9, Ricardo Dolmetsch10, Guoping Feng11,12, Daniel H Geschwind13, David C Glahn8, David B Goldstein3, David H Ledbetter7, Jennifer G Mulle14, Sergiu P Pasca15, Rodney Samaco16, Jonathan Sebat17, Anne Pariser18, Thomas Lehner4, Raquel E Gur19, Carrie E Bearden20.
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.Entities:
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Year: 2019 PMID： 31548702 PMCID： PMC8656349 DOI： 10.1038/s41591-019-0581-5
Source DB: PubMed Journal: Nat Med ISSN： 1078-8956 Impact factor: 53.440