Pacific Northwest Undiagnosed Diseases Network Clinical Site

太平洋西北地区未确诊疾病网络临床站点

• 批准号: 10676679
• 负责人: Katrina M Dipple
• 金额: $ 49.24万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-23 至 2023-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10676679
• 关键词: Area; Diagnostic; Disease; Enrollment; Funding; Goals; Individual; Medical; Pacific Northwest; Participant; Time; Underinsured; Ursidae Family; Work; clinical research site; cost; medically underserved; recruit

Abstract: The Undiagnosed Disease Network (UDN) works with participants who have undergone a long diagnostic odyssey that has thus far not explained their medical condition. As a clinical site in the network, we accept and evaluate participants while developing strategies to end diagnostic odyssey’s. This requested supplement is an application for funds for activities not originally planned. We are requesting additional time, through 6/30/23, to complete these aims. These new aims are: Aim 1: Bear increased costs to accept participants from out of our original Pacific Northwest area from 7/1/22 to 6/30/22. Aim 2: Enroll and evaluate new participants 3/1/23- 6/30/22 after the original planned and funded enrollment ends in February 2023, focusing on recruitment of under-insured and otherwise medically underserved individuals. The overall goal is to make the UDN accessible to more participants.

文摘:

项目成果

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.

• DOI: 10.1002/acn3.51786
• 发表时间: 2023-06
• 期刊: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
• 影响因子: 5.3
• 作者: Pujol-Gimenez, Jonai;Mirzaa, Ghayda;Blue, Elizabeth E.;Albano, Giuseppe;Miller, Danny E.;Allworth, Aimee;Bennett, James T.;Byers, Peter H.;Chanprasert, Sirisak;Chen, Jingheng;Doherty, Daniel;Folta, Andrew B.;Gillentine, Madelyn A.;Glass, Ian;Hing, Anne;Horike-Pyne, Martha;Leppig, Kathleen A.;Parhin, Azma;Ranchalis, Jane;Raskind, Wendy H.;Rosenthal, Elisabeth A.;Schwarze, Ulrike;Sheppeard, Sam;Strohbehn, Samuel;Sybert, Virginia P.;Timms, Andrew;Wener, Mark;Bamshad, Michael J.;Hisama, Fuki M.;Jarvik, Gail P.;Dipple, Katrina M.;Hediger, Matthias A.;Stergachis, Andrew B.
• 通讯作者: Stergachis, Andrew B.