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：
10653049
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/10653049
关键词：
Algorithms Automated Annotation 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 Floor 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 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 genome sequencing genome wide methylation genomic data high throughput screening human disease human genome sequencing human model improved insight mitochondrial genome model organism mosaic network models novel novel strategies phenotypic data precision medicine proband programs rare mendelian disorder 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.

项目概要拟议的贝勒医学院孟德尔基因组研究中心 (BCM-MGRC) 建立在贝勒霍普金斯孟德尔基因组学中心建立了广泛的发现和基础设施。该研究项目隶属于 BCM 分子和人类遗传学系，并将受益于广泛的合作研究基础设施，其中包括人类基因组测序中心、未确诊疾病网络临床站点、未确诊疾病网络模式生物筛选中心、贝勒遗传学诊断实验室和贝勒基因敲除小鼠程序。值得注意的是，这些项目都建立了自己的国内和国际合作。一个表型和种族多样化的国际队列，由约 15,000 名患有此病的个人和家庭组成难以诊断的罕见疾病（那些通过常规临床研究无法解决的疾病，例如外显子组）测序）以及可重新联系并同意广泛数据共享的人员将构成 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，实施更新的基因组测序技术以及分子和方法对优先候选疾病基因和变异体进行有机表型询问。现有数据 Lake 基础设施将与孟德尔基因组数据协调中心 (MGDCC) 和 AnVIL 集成共享关键成果，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 将通知开发和交付一种算法来解决未解决的问题，从而解决复杂的问题罕见病和常见病研究领域的分子机制，无缝整合预期的发现支持临床诊断和分子平面图的生成开发精准疗法。