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

• 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
• 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
• 来源: https://reporter.nih.gov/project-details/10600181
• 关键词: Animal Model; Bioinformatics; Biological; Collaborations; Communities; Complement; Data; Diagnosis; Diagnostic; Disease; Documentation; Drosophila genus; Ensure; Evaluation; Fishes; Funding; Genes; Goals; Human; Investigation; Manuscripts; Medicine; Mission; Modeling; New Acceptors; Oregon; Pathogenicity; Patients; Phase; Phase Transition; Phenotype; Privatization; Publications; Publishing; Quality Control; Rare Diseases; Research; Resources; Services; Site; Source; Technology; Therapeutic; Time; Universities; Variant; Work; Zebrafish; base; clinical research site; college; data mining; experience; experimental study; fly; gene network; human disease; in vivo; informatics tool; insight; meetings; novel; screening; working group

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

项目成果

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

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。

• DOI: 10.15698/cst2018.09.151
• 发表时间: 2018
• 期刊: Cell stress
• 影响因子: 6.4
• 作者: Deal,SamanthaL;Yamamoto,Shinya
• 通讯作者: Yamamoto,Shinya