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Center for functional analysis of human UDN gene homologs in Drosophila and zebrafish

果蝇和斑马鱼人类UDN基因同源物功能分析中心

基本信息

批准号：
10600181
负责人：
HUGO J BELLEN
金额：
$ 54.99万
依托单位：
BAYLOR COLLEGE OF MEDICINE
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-04-02 至 2023-06-30
项目状态：
已结题

项目摘要

SUMMARY This supplemental application for the BCM and U of Oregon MOSC proposes to continue to study and characterize variants in genes that have been submitted by the clinical sites of the UDN during phase II as well as anticipated new submissions in the coming year. We need to ensure that all patients that have been accepted by the clinical sites are treated equally and have a fair chance of being diagnosed. Hence, we will continue ongoing experiments on 32 genes in the fly MOSC and 12 genes in the fish MOSC submitted in phase I and II. We have already gathered data that suggest that many of these variants may be causative and the goal is now to obtain more compelling evidence that they are indeed the cause of disease and to publish the data in collaboration with the UDN sites. Based on previous experience, numerous cases are being diagnosed world-wide after we publish our work and well over 200 patients with rare diseases have benefited from our publications. Completing ongoing cases and anticipated new cases will require a very significant amount of resources and work at both sites. The work is so substantial that requested resources will need to be complemented with funding from private donors as well as institutional support. Given the considerable documented time lag between sequencing and submission to the MOSCs, we anticipate that many cases that will be submitted in the next year by the clinical sites will be cases that were accepted in phase I and II. We will accept many of these cases if we think we can model them in a timely fashion, even if this will exceed the funding period and we will therefore seek support from other sources

总结本补充申请为俄勒冈州MOSC的美国和美国建议继续研究并表征UDN临床研究中心提交的基因变异，第二阶段以及预计来年提交的新文件。我们需要确保所有已被临床中心接受的患者得到平等治疗，并有公平的机会被诊断出来因此，我们将继续对果蝇MOSC中的32个基因和12个基因进行实验。在第一和第二阶段提交的鱼类MOSC基因。我们已经收集到的数据表明，这些变异中的许多可能是致病的，现在的目标是获得更令人信服的证据，它们确实是疾病的原因，并与UDN网站合作发布数据。根据以往的经验，在我们发表我们的我们的工作和200多名罕见疾病患者从我们的出版物中受益。完成正在审理的案件和预期的新案件将需要大量资源，在这两个地方工作。工作量很大，需要补充所需资源由私人捐助者提供资金以及机构支持。鉴于大量的文件记录测序和提交给MOSC之间的时间差，我们预计，许多情况下，临床研究中心在明年提交的病例将是I期和II期接受的病例。如果我们认为我们可以及时地对它们进行建模，我们将接受其中的许多案例，即使这会因此，我们会寻求其他来源的支援

项目成果

期刊论文数量（9）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.

DOI：
10.1002/humu.24364
发表时间：
2022-06
期刊：
Human mutation
影响因子：
3.9
作者：
通讯作者：

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

DOI：
10.1016/j.ajhg.2018.01.020
发表时间：
2018-03-01
期刊：
American journal of human genetics
影响因子：
9.8
作者：
Oláhová M;Yoon WH;Thompson K;Jangam S;Fernandez L;Davidson JM;Kyle JE;Grove ME;Fisk DG;Kohler JN;Holmes M;Dries AM;Huang Y;Zhao C;Contrepois K;Zappala Z;Frésard L;Waggott D;Zink EM;Kim YM;Heyman HM;Stratton KG;Webb-Robertson BM;Undiagnosed Diseases Network;Snyder M;Merker JD;Montgomery SB;Fisher PG;Feichtinger RG;Mayr JA;Hall J;Barbosa IA;Simpson MA;Deshpande C;Waters KM;Koeller DM;Metz TO;Morris AA;Schelley S;Cowan T;Friederich MW;McFarland R;Van Hove JLK;Enns GM;Yamamoto S;Ashley EA;Wangler MF;Taylor RW;Bellen HJ;Bernstein JA;Wheeler MT
通讯作者：
Wheeler MT

Unweaving the role of nuclear Lamins in neural circuit integrity.

阐明核纤层蛋白在神经回路完整性中的作用。