A Multi-Omic Platform for Polycystic Ovary Syndrome Characterization and Management

用于多囊卵巢综合征特征和管理的多组学平台

• 批准号: 10080951
• 负责人: Christopher Mason
• 金额: $ 15.55万
• 依托单位: ONEGEVITY HEALTH LLC
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-09-22 至 2022-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10080951
• 关键词: Age; Animals; Anovulation; Artificial Intelligence; Bacteria; Bacteriophages; Biological Assay; Blood; Cardiovascular system; Clinical; Clinical Trials; Cohort Studies; Complex; Computational algorithm; Computer Models; Consensus; Control Groups; Custom; DNA; Data; Data Reporting; Data Set; Development; Diagnosis; Disease; Endocrine System Diseases; Evaluation; Functional disorder; General Population; Genomics; Goals; Health; Home environment; Hormones; Hyperandrogenism; Individual; Infertility; Irritable Bowel Syndrome; Lead; Literature; Measures; Medical; Metabolic; Metagenomics; Methods; Modality; Molecular; Molecular Profiling; Monitor; Morphology; Multiomic Data; Nature; Non-Insulin-Dependent Diabetes Mellitus; Obesity; Oligonucleotides; Ovarian; Patient Self-Report; Patients; Phenotype; Plants; Polycystic Ovary Syndrome; Pregnancy Complications; Prevalence; Prevention; Probiotics; Recommendation; Risk; Sampling; Self Management; Serum; Shotguns; Spontaneous abortion; Symptoms; System; Technology; Testing; Urine; Variant; Virus; Vitamins; Woman; Work; base; cardiovascular health; convolutional neural network; cost effective; design; diagnostic biomarker; diet and exercise; genome sequencing; gut microbiome; improved; indexing; metabolomics; metagenome; metagenomic sequencing; microbiome; multiple omics; next generation; next generation sequencing; novel; ovarian dysfunction; patient health information; personalized intervention; prebiotics; prospective; reproductive; small molecule; symptom management; whole genome

Project Summary/Abstract Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women of reproductive age. Due to the complex nature of PCOS, diagnosis is often delayed and options for treatment and self-management are limited. With recent developments in high-throughput, next- generation and metabolomics technologies, there is now a unique opportunity to utilize a cost- effective, multi-omic approach to study individuals with PCOS. In this application, we propose to apply these technologies to examine women with PCOS, developing a platform that is cost-effective, scalable, integrative, and highly accurate. Our multi- omic platform (FemBio) will integrate patient’s medical records, genomics, microbiome (shotgun metagenomics), and metabolomics to create a molecular profile of women with and without PCOS. This approach has the potential to provide a more comprehensive characterization of PCOS, to lead to the identification of improved diagnostic markers, and to allow for the discovery of novel targets for treatment. Moreover, we propose a prospective observational cohort study including whole genome sequencing, shotgun metagenomic sequencing of the gut microbiome, fecal metabolomics, serum and urine hormone levels, and clinical indices in a sample of individuals with PCOS and a healthy control group. This platform (FemBio) will enable broader accessibility to the latest in molecular assays, multi- omic quantification, and computational modeling for the general public, which currently is lacking. In turn, this will improve options for PCOS characterization, long-term management, and open potentially new treatment options for the millions of women suffering from this disorder, as well as serve as a large, annotated multi-omic data set that can help the PCOS field more broadly.

项目概要/摘要 多囊卵巢综合症（PCOS）是女性最常见的内分泌疾病 生育年龄。由于 PCOS 的复杂性，诊断常常被延迟，并且选择治疗方案 治疗和自我管理是有限的。随着高通量的最新发展，下一代 生成和代谢组学技术，现在有一个独特的机会利用成本 有效的多组学方法来研究 PCOS 个体。 在此应用中，我们建议应用这些技术来检查患有 PCOS 的女性， 开发一个具有成本效益、可扩展、集成且高度准确的平台。我们的多 omic 平台（FemBio）将整合患者的医疗记录、基因组学、微生物组 （鸟枪宏基因组学）和代谢组学，以创建患有以下疾病的女性的分子概况： 没有多囊卵巢综合症。这种方法有可能提供更全面的 PCOS 的表征，以识别改进的诊断标记物，并 允许发现新的治疗靶点。此外，我们提出了一个前瞻性的 观察性队列研究，包括全基因组测序、鸟枪法宏基因组 肠道微生物组、粪便代谢组学、血清和尿液激素水平的测序，以及 多囊卵巢综合症患者样本和健康对照组的临床指标。 该平台 (FemBio) 将使人们能够更广泛地获取最新的分子检测、多 面向大众的组学量化和计算建模，目前正在 缺乏。反过来，这将改善 PCOS 特征、长期管理、 并为数百万患有此病的女性提供潜在的新治疗选择 紊乱，以及作为一个大型的、带注释的多组学数据集，可以帮助 PCOS 领域 更广泛地说。