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)

• 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
• 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

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.

项目总结 拟议的贝勒医学院孟德尔基因组研究中心(BCM-MGRC)建立在 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。 这项研究计划嵌套在BCM分子和人类遗传学系内，并将 受益于广泛的协作研究基础设施，其中包括人类基因组 排序中心，未诊断疾病网络临床站点，未诊断疾病网络 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，这些项目中的每一个都建立了自己的国内和国际合作。 由大约15,000名个人和家庭组成的表型和种族多样化的国际队列 极具挑战性的罕见疾病诊断(如Exome等常规临床研究无法解决的疾病 测序)，以及可重新联系并同意广泛共享数据的人将构成BCM的基础- MGRC研究计划。该中心将整合基因组数据分析、数据共享等新方法 跨网络，实施较新的基因组测序技术，以及分子和 优先候选疾病基因和变异体的生物表型询问。现有数据 莱克基础设施将与孟德尔基因组数据协调中心(MGDCC)和铁锤整合 共享关键交付成果，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。作为一个完全整合的孟德尔基因组研究中心，BCM- MGRC将通知开发和交付一种算法，用于解决将解决复杂问题的未解决问题 在罕见病和常见病研究领域的分子机制，与 支持临床诊断和分子平面图生成的预期发现 发展精准疗法。