作者
Stephan J Sanders, Mustafa Sahin, Joseph Hostyk, Audrey Thurm, Sebastien Jacquemont, Paul Avillach, Elise Douard, Christa L Martin, Meera E Modi, Andres Moreno-De-Luca, Armin Raznahan, Alan Anticevic, Ricardo Dolmetsch, Guoping Feng, Daniel H Geschwind, David C Glahn, David B Goldstein, David H Ledbetter, Jennifer G Mulle, Sergiu P Pasca, Rodney Samaco, Jonathan Sebat, Anne Pariser, Thomas Lehner, Raquel E Gur, Carrie E Bearden
发表日期
2019/10
来源
Nature medicine
卷号
25
期号
10
页码范围
1477-1487
出版商
Nature Publishing Group US
简介
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 …
引用总数
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