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Genomic medicine and gene function implementation for an underserved population

针对服务不足人群的基因组医学和基因功能实施

基本信息

批准号：
10450159
负责人：
HUGO J BELLEN
金额：
$ 96.22万
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：
2021-07-13 至 2026-04-30
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10450159
关键词：
Affect American Animal Model Artificial Intelligence Attitude Bioinformatics Biological Assay Candidate Disease Gene Caring Child Clinic Clinical Computers DNA DNA sequencing Data Databases Diagnosis Disease Drosophila genus Drosophila melanogaster Enrollment Expert Systems Explosion Family Future Genes Genetic Counseling Genetic Diseases Genetic Research Genetic Variation Genetic study Genome Genomic medicine Genomics Goals Grant Health Insurance Healthcare Hospitals Human Human Genetics Individual Informatics Insurance Insurance Coverage Machine Learning Medical Medical Genetics Medicine Minority Groups Modeling Molecular Genetics National Human Genome Research Institute Nose Diseases Parents Patient-Focused Outcomes Patients Pediatric Hospitals Perception Persons Play Population Rare Diseases Reporting Research Research Personnel Role Scientist Societies Technology Testing Texas Time Training Underserved Population Validation Variant Work actionable mutation base bioinformatics tool cohort college cost design diagnostic tool disease diagnosis ethnic minority exome exome sequencing experience follow-up gene discovery gene function genetic disorder diagnosis genomic data innovation insight interest low socioeconomic status medical schools network models novel operation personalized genomic medicine proband programs protein function psychologic public health insurance recruit research clinical testing research study screening social success tool virtual visit

项目摘要

PROJECT SUMMARY Here we propose to advance the goal of NHGRI to implement genomic medicine and focus on individuals who have not been able to afford DNA testing. The research takes place in the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM) and Texas Childrens Hospital (TCH). Our team of clinicians, geneticists, computer scientists, genomicists and model organism researchers has had a five-year term of success with the Undiagnosed Diseases Network (UDN) Model Organisms Screening Center (MOSC). This has included successfully identifying a number of new disease genes such as EBF3, IRF2BPL, NACC1, TBX2, TOMM70, CDK19, ACOX1, WDR37, and ATP5F1D. We propose to recruit 100 individuals from an underserved population in Houston, Texas with suspected rare disease and without the means to pay for DNA sequencing through insurance. We will provide whole-exome sequencing which will generate a CAP/CLIA report that we anticipate could diagnose 35-40 individuals per year. The remaining individuals will then be converted to a family-based trio exome design. All the sequencing costs of this project will be covered by philanthrophic donation to our hospital and are not budgeted to the grant. We will make every effort to diagnose the remaining 60 individuals per year through machine learning and informatics using the MARRVEL platform, Drosophila functional studies of candidate genes and through ongoing 6 month, 12 month and 2 year follow-up with the patients where we will use matchmaking efforts such as GeneMatcher and Matchmaker exchange as well as our own genomic databases from the UDN and other studies to come to a genetic diagnosis. All subjects will receive genetic counseling from a trained team and will provide us with valuable medical, psychological and social data to guide how genomic implementation in an underserved population is perceived, impacts care and impacts the family. This work will not only produce novel insights into rare disease, diagnosis for undiagnosed families and an expanded role for genomics, it will guide us in the future to provide genomics and functional research to serve all individuals regardless of their ability to pay.

项目概要在此我们建议推进NHGRI实施基因组医学并关注个体的目标那些无力承担 DNA 检测费用的人。该研究在分子和科学系进行贝勒医学院 (BCM) 和德克萨斯儿童医院 (TCH) 的人类遗传学。我们的团队临床医生、遗传学家、计算机科学家、基因组学家和模式生物研究人员已经经历了五年未确诊疾病网络 (UDN) 模式生物筛查中心 (MOSC) 的成功期限。这包括成功鉴定许多新的疾病基因，如 EBF3、IRF2BPL、NACC1、 TBX2、TOMM70、CDK19、ACOX1、WDR37 和 ATP5F1D。我们拟从以下单位招聘 100 名人员：德克萨斯州休斯顿的医疗服务不足的人群患有疑似罕见病且无力支付医疗费用通过保险进行 DNA 测序。我们将提供全外显子组测序，生成 CAP/CLIA 报告称，我们预计每年可以诊断 35-40 人。剩下的人将被转换为基于家族的三外显子组设计。该项目的所有测序费用将由对我们医院的慈善捐赠并未列入补助金预算。我们将竭尽全力每年使用 MARRVEL 通过机器学习和信息学诊断剩余的 60 个人平台，对候选基因进行果蝇功能研究，并持续进行 6 个月、12 个月和 2 年对患者进行随访，我们将使用 GeneMatcher 和 Matchmaker 等配对工作交换以及我们自己的 UDN 基因组数据库和其他研究，以得出遗传诊断。所有受试者都将接受训练有素的团队的遗传咨询，并将为我们提供有价值的信息医学、心理和社会数据指导如何在服务不足的人群中实施基因组被感知，影响护理并影响家庭。这项工作不仅会对稀有的事物产生新颖的见解疾病、未确诊家庭的诊断以及基因组学的扩大作用，它将指导我们的未来提供基因组学和功能研究，为所有人服务，无论其支付能力如何。