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Drosophila Core

果蝇核心

基本信息

批准号：
10201758
负责人：
Michael Francis Wangler
金额：
$ 21.51万
依托单位：
BAYLOR COLLEGE OF MEDICINE
依托单位国家：
美国
项目类别：
财政年份：
2015
资助国家：
美国
起止时间：
2015-09-15 至 2023-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10201758
关键词：
Address Affect Amino Acids Animal Model Bacterial Artificial Chromosomes Bioinformatics Biological Biological Assay Biology CRISPR/Cas technology Candidate Disease Gene Case Study Cell Culture Techniques Cells Chest Clustered Regularly Interspaced Short Palindromic Repeats Code Collaborations Collection Communities Complement Complementary DNA Cultured Cells DNA cassette Data Diagnosis Disease Drosophila genome Drosophila genus Engineering Exons Eye Fibroblasts Funding Future Gene Expression Profile Generations Genes Genetic Genetic Transcription Genomics Goals Head Human Human Cell Line Human Genetics Informatics International Introns Knockout Mice Leadership Lesion Libraries Mediating Medical Medical Genetics Medicine Methodology Mitochondrial Proteins Molecular Muscle Mutation Nervous system structure Oregon Orthologous Gene Pathology Patients Pattern Phase Phenotype Proteins Rare Diseases Reagent Reporter Reproducibility Research Resources Services Site System TNFSF5 gene Technology Tissues Trans-Activators Transgenic Organisms Translating Transmission Electron Microscopy Universities Variant Wing Work Zebrafish actionable mutation base bioinformatics pipeline clinical research site cohort college diagnostic platform experience experimental study flexibility fly gain of function gene function genetic resource genetic variant genome-wide genomic locus human disease human genomics human model in vivo innovation innovative technologies insight interest loss of function loss of function mutation mutant overexpression protein function screening symposium tool transcription factor

项目摘要

PROJECT SUMMARY The proposed Phase II continuation of the Model Organism Screening Center (MOSC) for the Undiagnosed Diseases Network (UDN) builds on extensive tools, reagents, and pipelines that we established in Phase I. The leadership team represents international expertise in Drosophila, zebrafish, and human medical genetics. In Phase I, the MOSC developed an interface in the UDN Gateway that supports submission of cases, genes, and variants that the clinical sites propose for model organism studies. The MOSC also developed MARRVEL (www.MARRVEL.org), an online tool that integrates human and model organism data and helps to prioritize variants. The MOSC further established collaborations with independently funded collections of rare disease cohorts at Baylor College of Medicine (BCM) that we use to identify matches to UDN phenotypes and genetic variants. The MOSC holds regular conference calls with clinical sites and provides tools that help them to select variants. The MOSC will continue calls with the sites to review informatic analyses and then assign variants (estimated at 45 per year) for in-depth model organism studies of variants and genes. In the Drosophila Core at BCM, approximately 30 genes and variants per year are studied with innovative technology in flies. For 15 additional genes/variants that affect vertebrate-specific genes or biology, the Zebrafish Core at the University of Oregon will induce new mutations in zebrafish with CRISPR/Cas9 followed by high throughput phenotypic analyses. The MOSC will also develop tools and reagents for future variant studies in Drosophila and zebrafish for an additional 100 genes per year. We will share these additional resources with the broader research community through an innovative ModelMatcher service and will also prioritize genes for generation of mouse knock-outs in collaboration with the Knockout Mouse Phenotyping Project (KOMP). Thus, the proposed center will provide informatics selection, human genetics expertise, broad versatile model organism resources, and in-depth studies of UDN cases to aid in diagnosis. The MOSC employs the most innovative technologies in human genomics and Drosophila and zebrafish genetics, based on extensive previous experience modeling human disease.

项目总结