Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation.
Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation.
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DOI：
10.1002/ajmg.c.31825
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发表时间：
2020-09
期刊：
影响因子：
--
通讯作者：
Branham KH
中科院分区：
文献类型：
--
作者：
Mansfield BC;Yerxa BR;Branham KH
该基金会战斗失明是一个50岁的501c（3）非营利组织，致力于支持开发治疗和治愈受遗传性视网膜疾病（IRD）影响的人，一组临床诊断，包括孤儿疾病，如视网膜色素变性，Usher综合征和Stargardt病等。超过7.6亿美元已筹集并投资于临床前和临床研究和资源。关键资源包括一个多国临床联盟，一个拥有超过15，700名成员的国际患者登记处，正在迅速扩大，以及一个开放获取基因检测计划，为居住在美国的临床诊断为IRD的人提供免费的综合基因检测。这些计划的描述特别侧重于建立登记和基因检测计划的挑战和成果。
The Foundation Fighting Blindness is a 50‐year old 501c(3) non‐profit organization dedicated to supporting the development of treatments and cures for people affected by the inherited retinal diseases (IRD), a group of clinical diagnoses that include orphan diseases such as retinitis pigmentosa, Usher syndrome, and Stargardt disease, among others. Over $760 M has been raised and invested in preclinical and clinical research and resources. Key resources include a multi‐national clinical consortium, an international patient registry with over 15,700 members that is expanding rapidly, and an open access genetic testing program that provides no cost comprehensive genetic testing to people clinically diagnosed with an IRD living in the United States. These programs are described with particular focus on the challenges and outcomes of establishing the registry and genetic testing program.
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影响因子：
30.8
作者：
Vervoort, R;Lennon, A;Wright, AF
通讯作者：
Wright, AF
DOI：
10.1073/pnas.1913179117
发表时间：
2020-02-04
影响因子：
11.1
作者：
Hanany, Mor;Rivolta, Carlo;Sharon, Dror
通讯作者：
Sharon, Dror
对1000个遗传性视网膜疾病的连续家庭进行临床焦点分子研究。
影响因子：
13.7
作者：
Stone EM;Andorf JL;Whitmore SS;DeLuca AP;Giacalone JC;Streb LM;Braun TA;Mullins RF;Scheetz TE;Sheffield VC;Tucker BA
通讯作者：
Tucker BA
影响因子：
4.5
作者：
Craig, Benjamin M.;Reeve, Bryce B.;Revicki, Dennis A.
通讯作者：
Revicki, Dennis A.
DOI：
10.1038/gim.2016.158
发表时间：
2017-06
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Bujakowska KM;Fernandez-Godino R;Place E;Consugar M;Navarro-Gomez D;White J;Bedoukian EC;Zhu X;Xie HM;Gai X;Leroy BP;Pierce EA
通讯作者：
Pierce EA