Genomic medicine and gene function implementation for an underserved population

项目总结 这是为符合条件的医科学生加入NHGRI资助的项目而提供的多样性补充。 该项目推进了NHGRI实施基因组医学的目标，并专注于 负担不起DNA检测费用的个人。这项研究发生在 贝勒医学院分子和人类遗传学系。我们的团队 临床医生、遗传学家、计算机科学家、基因学家和模型生物体研究人员 在未诊断疾病网络(UDN)模式生物方面取得了长期成功 筛选中心(MOSC)。这包括成功识别了一些新的疾病 EBF3、IRF2BPL、NACC1、TBX2和ATP5F1D等基因。我们建议招聘100人 来自德克萨斯州休斯敦未得到充分服务的人群中患有疑似罕见疾病和 没有办法通过保险来支付DNA测序费用。我们将为您提供全套服务 测序将生成CAP/CLIA报告，我们预计可以诊断35-40 每年的个人数量。剩下的个体将被转换为以家庭为基础的三人组 Exome设计。该项目的所有测序费用将由慈善机构支付 捐赠给我们的医院，并不是预算中的赠款。我们将尽一切努力 每年通过机器学习和信息学诊断剩余的60个人 在MARRVEL平台上，对果蝇候选基因和正在进行的功能研究 与患者进行6个月、12个月和2年的随访，我们将在这些地方进行撮合努力 例如GeneMatcher和Matchaker Exchange以及我们自己基因组数据库 UDN和其他研究得出了基因诊断。无论如何，所有受试者都将收到 来自训练有素的团队的遗传咨询，将为我们提供宝贵的医疗、心理 和社交数据，以指导在服务不足的人群中实施基因组的情况 感知、影响照顾和影响家庭。这项工作不仅将产生新的见解 进入罕见疾病，为未确诊的家庭进行诊断，并扩大基因组学的作用，它将 指导我们未来提供基因组学和功能研究，以服务于所有个人 不管他们的支付能力如何。学生将从以下方面参与该项目的各个方面 患者招募，Exome重新分析，与Fly Lab方面的互动，并将结果返回给 一家人。

PROJECT SUMMARY This is a Diversity supplement for a qualified medical student to join this NHGRI funded project. This project advances the goal of NHGRI to implement genomic medicine and focuses 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. Our team of clinicians, geneticists, computer scientists, genomicists and model organism researchers has had long term 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, 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. Regardless 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. The student will be involved in all aspects of this project from patient recruitment, exome re-analysis, interaction with fly lab aspect and return of results to the family.