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一项关于昼夜节律的新型家庭研究:Circadia研究的设计、基本原理和方法

A Novel Home-Based Study of Circadian Rhythms: Design, Rationale, and Methods for the Circadia Study.

作者信息

Vlasac Irma M, Bormes Gregory W, Do Elizabeth, Benkhoukha Selma S, Diallo Naby, Fryou Noah L, Gioia Siena, Akeju Oluwaseun, Joseph Clarence, Kuan Anne, Lapan Jennifer, Oluwadara David, Team The Pepper, Rahman Shadab A, Saxena Richa, Scheer Frank A J L, Westover M Brandon, Winkelman John W, Woodson Faraji, Lane Jacqueline M

机构信息

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA.

出版信息

Sleep. 2023 Aug 9. doi: 10.1093/sleep/zsad197.

Abstract

The Circadia Study (Circadia) is a novel "direct-to-participant" research study investigating the genetics of circadian rhythm disorders of advanced and delayed sleep phase and non-24 hour rhythms. The goals of the Circadia Study are twofold: (i) to create an easy-to-use toolkit for at-home circadian phase assessment for patients with circadian rhythm disorders through the use of novel in-home based surveys, tests, and collection kits; and (ii) create a richly phenotyped patient resource for genetic studies that will lead to new genetic loci associated with circadian rhythm disorders revealing possible loci of interest to target in the development of therapeutics for circadian rhythm disorders. Through these goals, we aim to broaden our understanding and elucidate the genetics of circadian rhythm disorders across a diverse patient population while increasing accessibility to circadian rhythm disorder diagnostics reducing health disparities through self-directed at-home dim light melatonin onset (DLMO) collections.

摘要

昼夜节律研究(Circadia)是一项新颖的“直接面向参与者”的研究,旨在探究晚睡相、早睡相及非24小时节律等昼夜节律紊乱的遗传学机制。昼夜节律研究的目标有两个:(i)通过使用新型的居家调查、测试和采集试剂盒,为昼夜节律紊乱患者创建一个易于使用的居家昼夜节律相位评估工具包;(ii)为基因研究创建一个具有丰富表型的患者资源,这将有助于发现与昼夜节律紊乱相关的新基因位点,从而揭示在开发昼夜节律紊乱治疗药物时可能的靶点位点。通过这些目标,我们旨在拓宽对不同患者群体中昼夜节律紊乱遗传学的理解并阐明其机制,同时通过自我指导的居家暗光褪黑素起始时间(DLMO)采集,提高昼夜节律紊乱诊断的可及性,减少健康差距。

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