The Black and African American Connections to Parkinson's Disease (BLAAC PD) study protocol.

IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY
Lana M Chahine, Naomi Louie, J Solle, Fulya Akçimen, Andrew Ameri, Samantha Augenbraun, Sabrina Avripas, Sarah Breaux, Christopher Causey, Shivika Chandra, Marissa Dean, Elizabeth A Disbrow, Lauren Fanty, Jessica Fernandez, Erin R Foster, Erin Furr Stimming, Deborah Hall, Vanessa Hinson, Ashani Johnson-Turbes, Cabell Jonas, Camilla Kilbane, Scott A Norris, Bao-Tran Nguyen, Mahesh Padmanaban, Kimberly Paquette, Carly Parry, Natalia Pessoa Rocha, Ashley Rawls, Ejaz A Shamim, Lisa M Shulman, Rebeka Sipma, Julia Staisch, Rami Traurig, Rainer von Coelln, Peter Wild Crea, Tao Xie, Zih-Hua Fang, Alyssa O'Grady, Catherine M Kopil, Maggie McGuire Kuhl, Andrew Singleton, Cornelis Blauwendraat, Sara Bandres-Ciga
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引用次数: 0

Abstract

Determining the genetic contributions to Parkinson's disease (PD) across diverse ancestries is a high priority as this work can guide therapeutic development in a global setting. The genetics of PD spans the etiological risk spectrum, from rare, highly deleterious variants linked to monogenic forms with Mendelian patterns of inheritance, to common variation involved in sporadic disease. A major limitation in PD genomics research is lack of racial and ethnic diversity. Enrollment disparities have detrimental consequences on the generalizability of results and exacerbate existing inequities in care. The Black and African American Connections to Parkinson's Disease (BLAAC PD) study is part of the Global Parkinson's Genetics Program, supported by the Aligning Science Across Parkinson's initiative. The goal of the study is to investigate the genetic architecture underlying PD risk and progression in the Black and/or African American populations. This cross-sectional multicenter study in the United States has a recruitment target of up to 2,000 individuals with PD and up to 2,000 controls, all of Black and/or African American ancestry. The study design incorporates several strategies to reduce barriers to research participation. The multifaceted recruitment strategy aims to involve individuals with and without PD in various settings, emphasizing community outreach and engagement. The BLAAC PD study is an important first step toward informing understanding of the genetics of PD in a more diverse population.

黑人和非裔美国人与帕金森病的联系(BLAAC PD)研究协议。
确定不同祖先对帕金森病(PD)的遗传贡献是当务之急,因为这项工作可以指导全球范围内的治疗开发。帕金森病的遗传学横跨病因风险谱,从与孟德尔遗传模式的单基因形式相关的罕见、高度有害变异,到与散发性疾病相关的常见变异。帕金森病基因组学研究的一个主要局限是缺乏种族和民族多样性。入学率的差异会对研究结果的推广产生不利影响,并加剧现有的护理不公平现象。黑人和非裔美国人与帕金森病的联系(BLAAC PD)研究是全球帕金森病遗传学计划的一部分,得到了 "帕金森病科学联盟"(Aligning Science Across Parkinson's initiative)的支持。该研究的目标是调查黑人和/或非裔美国人帕金森病风险和进展的遗传结构。这项在美国进行的横断面多中心研究的招募目标是多达 2000 名帕金森病患者和多达 2000 名对照者,他们都具有黑人和/或非裔美国人血统。研究设计采用了多种策略来减少参与研究的障碍。多方面的招募策略旨在让患有和未患有帕金森病的个体在各种环境中参与研究,强调社区宣传和参与。BLAAC帕金森病研究迈出了重要的第一步,有助于了解更多不同人群的帕金森病遗传学情况。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
BMC Neurology
BMC Neurology 医学-临床神经学
CiteScore
4.20
自引率
0.00%
发文量
428
审稿时长
3-8 weeks
期刊介绍: BMC Neurology is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of neurological disorders, as well as related molecular genetics, pathophysiology, and epidemiology.
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