Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)

贝勒医学院 - 孟德尔基因组研究中心 (BCM-MGRC)

基本信息

批准号：
10451734
负责人：
RICHARD A GIBBS
金额：
$ 233.78万
依托单位：
BAYLOR COLLEGE OF MEDICINE
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-07-15 至 2026-04-30
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10451734
关键词：
Algorithms Animal Model Basic Science Benchmarking Bioinformatics Biological Assay Candidate Disease Gene Clinical Clinical Research Code Collaborations Complex Consent Data Data Analyses Data Coordinating Center Detection Development Diagnosis Diagnostic Disease Disease model Enrollment Etiology Family Foundations Generations Genes Genetic Genome Genomic approach Genomic medicine Genomics Goals Haploidy Human Human Genetics Individual Infrastructure International Knockout Mice Laboratories Life Cycle Stages Link Medical Genetics Medicine Mendelian disorder Metadata Methods Methylation Mitochondria Molecular Molecular Diagnosis Molecular Genetics Mosaicism Mutation Online Mendelian Inheritance In Man Pathogenicity Pattern Pediatric Hospitals Penetrance Phenotype Precision therapeutics Proteins Public Health Schools Rare Diseases Research Research Infrastructure Short Tandem Repeat Technology Texas Transcriptional Regulation Translational Research Universities Untranslated RNA Validation Variant advanced disease clinical care clinical diagnostics clinical research site cohort college data access data lake data sharing diagnostic accuracy ethnic diversity exome sequencing follow-up gene discovery genetic variant genome sequencing genome wide methylation genomic data high throughput screening human disease human genome sequencing human model improved insight mitochondrial genome network models novel novel strategies phenotypic data precision medicine proband programs screening success therapeutic development trait transcriptome sequencing variant of unknown significance whole genome

项目摘要

PROJECT SUMMARY The proposed Baylor College of Medicine Mendelian Genomics Research Center (BCM-MGRC) builds on the extensive discoveries and infrastructure established in the Baylor Hopkins Center for Mendelian Genomics. This research program is nested within the Department of Molecular and Human Genetics at BCM and will benefit from an extensive collaborative research infrastructure which includes, the Human Genome Sequencing Center, the Undiagnosed Diseases Network Clinical Site, the Undiagnosed Diseases Network Model Organism Screening Center, Baylor Genetics diagnostic laboratory, and the Baylor Knockout Mouse Program. Notably, each of these programs has established their own national and international collaborations. A phenotypically and ethnically diverse, international cohort of ~15,000 individuals and families with challenging-to-diagnose rare disease conditions (those unsolved by routine clinical studies such as exome sequencing) and who are re-contactable and consented for broad data-sharing will form the basis of the BCM- MGRC research program. The Center will integrate novel methods of genomic data analysis, data sharing across networks, implementation of newer genomic sequencing technologies, and methods for molecular and organismal phenotypic interrogation of prioritized candidate disease genes and variants. The existing Data Lake infrastructure will integrate with the Mendelian Genomics Data Coordinating Center (MGDCC) and AnVIL to share key deliverables including genomic and phenotypic data, case metadata, and a BCM-MGRC- developed Genomic Medicine Toolbox. As a fully integrated Mendelian Genomics Research Center, the BCM- MGRC will inform development and delivery of an algorithm for solving the unsolved that will tackle complex molecular mechanisms in the rare and common disease research space, with seamless integration of anticipated discoveries to support clinical diagnostics and the generation of molecular floorplans from which to develop precision therapeutics.

项目摘要拟议的贝勒医学院孟德尔基因组学研究中心（BCM-MGRC）建立在贝勒·霍普金斯（Baylor Hopkins）孟德尔基因组学中心建立的广泛发现和基础设施。该研究计划嵌套在BCM的分子和人类遗传学系中，并将从包括人类基因组在内的广泛协作研究基础设施中受益测序中心，未诊断的疾病网络临床部位，未诊断的疾病网络模型有机体筛查中心，贝勒遗传学诊断实验室和贝勒敲除老鼠程序。值得注意的是，这些计划中的每一个都建立了自己的国家和国际合作。一个表型和种族多元化的国际队列，约有15,000个个人和家庭具有挑战性到诊断的罕见病疾病（那些未通过常规临床研究解决的疾病，例如外显型测序）并且可以重新连接并同意进行广泛的数据共享将构成BCM-的基础 MGRC研究计划。该中心将整合基因组数据分析，数据共享的新方法跨网络，实施较新的基因组测序技术以及分子和分子的方法对优先候选疾病基因和变异的有机表型询问。现有数据湖基础设施将与门德利基因组数据协调中心（MGDCC）和砧座集成共享关键可交付成果，包括基因组和表型数据，病例元数据和BCM-MGRC- 开发了基因组医学工具箱。作为一个完全综合的孟德尔基因组学研究中心，BCM- MGRC将为解决尚待解决复合物的未解决的算法提供通知和交付的开发和交付罕见和常见疾病研究空间中的分子机制，无缝整合预期的发现以支持临床诊断和分子平面图的产生开发精确的治疗剂。