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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.

项目总结