Identification of biologically relevant subtypes of hidradenitis suppurativa

化脓性汗腺炎生物学相关亚型的鉴定

基本信息

批准号：
10643831
负责人：
Lynn Petukhova
金额：
$ 8.67万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-06-01 至 2025-05-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10643831
关键词：
Abscess Address Advertising Affect All of Us Research Program Anogenital region Automobile Driving Axilla Biological Biology Biometry Caring Chronic Cicatrix Clinical Code Communities Complement Consent Data Data Reporting Development Diagnosis Diagnostic Disease Disease Outbreaks Disparate Economic Burden Electronic Health Record Electronic Medical Records and Genomics Network Enrollment Epidemiology Etiology Funding Furuncles Future Genetic Genetic Risk Genome Goals Health Health Care Costs Healthcare Heterogeneity Hidradenitis Suppurativa Human Genetics Individual Infrastructure Inguinal region International Classification of Disease Codes Internet Investments Knowledge Leg Lesion Link Liquid substance Literature Longitudinal cohort Maps Medical Mendelian randomization Methods Molecular Biology Molecular Diagnosis Mutation National Human Genome Research Institute National Institute of Arthritis, and Musculoskeletal, and Skin Diseases Pain Participant Pathogenesis Patient Care Patients Pattern Phenotype Physiological Population Practice Guidelines Precision Medicine Initiative Prevalence Productivity Publishing Quality of life Recording of previous events Records Recurrence Research Research Design Research Methodology Research Personnel Research Training Resources Sampling Site Stigmatization Subgroup Surveys Symptoms Syndrome Testing Time Training Translational Research Treatment outcome United States National Institutes of Health Universities Validation Work arm biomedical informatics clinical diagnosis cohort comorbidity data repository data resource data sharing design diagnostic tool disorder subtype effective therapy genome wide association study health care service utilization health data improved individual patient instrument large datasets learning strategy medically underserved member multidimensional data neglect online resource patient engagement patient stratification patient subsets precision medicine prevent programs psychosocial recruit research study skin disorder social media social stigma symptom self management translational potential unsupervised learning validation studies

项目摘要

Project Summary Hidradenitis suppurativa (HS) is a neglected, prevalent, chronic, stigmatizing, and debilitating disease that has recently been prioritized for study by NIAMS. Evidence suggests that some HS patients choose to self-manage symptoms remaining unconnected to healthcare, and some seek medical care for repeated outbreaks of boils but never receive a diagnosis. Such ‘hidden populations’ create challenges for designing research studies that are generalizable. Precision medicine initiatives and resources offer opportunities to rapidly increase our knowledge about biological causes of HS and to improve the care that HS patients receive. For example, the NIH has made considerable investments in the development of data repositories that link genetic data to EHR for hundreds of thousands of patients, including the NHGRI-funded eMERGE Network and the NIH-funded All of Us Research Program. Columbia University investigators are integral members of these nationwide programs, both as a recruitment site, as well as a data and research center (5U01HG008680, 1OT2OD026556). Engaging research participants who are willing to contribute longitudinal data is a major obstacle to precision medicine initiatives. The public’s use of the Internet and social media to obtain and exchange health-related information has created opportunities to rapidly and efficiently assemble large longitudinal cohorts, yet there are important differences from traditional research methods and best practice guidelines have yet to be developed. Columbia University is at the forefront of the development and application of these methods. A major challenge to implementing precision medicine arises from patients who share a diagnosis but have different biological causes of disease. HS patients have a high burden of comorbidities and we hypothesize that sets of comorbidities that tend to present together in individual patients can be used to identify biologically relevant disease subtypes. Here we will use three approaches to identify patterns of comorbidities within patients, to characterize the generalizability of the results from studies conducted in EHR, and to use genetic data to biologically validate comorbidities and resolve causality underlying disease associations. Training in biomedical informatics and Internet-based survey research will allow the applicant to use EHR data and Internet resources for assembling cohorts to conduct these studies, and complement her previous training in epidemiology, biostatistics, molecular biology and human genetics, providing fluency across several domains that are crucial for advancing precision medicine initiatives. Completion of this proposal will achieve the applicant’s long-term goal of obtaining advanced training aimed at implementing precision medicine in the treatment of skin disease.

项目摘要 Hidradenenitis purrativa（HS）是一种被忽视的，普遍的，慢性的，污名化的，具有衰弱的疾病最近，NIAMS优先考虑研究。有证据表明一些HS患者选择自我管理与医疗保健无关的症状，有些人寻求医疗保健但永远不会收到诊断。这种“隐藏人口”为设计研究带来了挑战，是可以推广的。精密医学计划和资源提供了迅速增加我们的机会有关HS生物学原因的知识，并改善HS患者接受的护理。例如， NIH已考虑将遗传数据与EHR联系起来的数据存储库的开发成千上万的患者，包括NHGRI资助的Emerge网络和NIH资助的所有患者美国研究计划。哥伦比亚大学的调查人员是这些全国计划的组成部分，既作为招聘站点，又是数据和研究中心（5U01HG008680，1OT2OD026556）。参与愿意贡献纵向数据的研究参与者是精密医学的主要障碍倡议。公众使用互联网和社交媒体来获取和交换与健康相关的信息已经创造了快速有效地组装大型纵向人群的机会，但是有重要的尚未制定与传统研究方法和最佳实践指南的差异。哥伦比亚大学处于这些方法开发和应用的最前沿。对实施精确药物是由共享诊断但有不同生物学原因的患者产生的疾病。 HS患者的合并症很高，我们假设合并症集倾向于在个别患者中共同呈现，可用于鉴定与生物学相关的疾病亚型。这里我们将使用三种方法来识别患者内合并症的模式，以表征在EHR中进行的研究结果的概括性，并使用遗传数据在生物学上验证合并症和解决疾病关联的偶然性。生物医学信息培训和基于互联网的调查研究将使申请人使用EHR数据和互联网资源来组装进行这些研究，并补充她先前在流行病学，生物统计学，分子方面的培训生物学和人类遗传学，在几个领域中提供流利性，这些领域对于提高精度至关重要医学计划。该提案的完成将实现申请人的长期目标，即获得高级旨在在治疗皮肤病方面实施精确医学的培训。

项目成果

期刊论文数量（6）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

International Classification of Diseases codes do not capture all cases of hidradenitis suppurativa in the electronic health record: a retrospective cohort.

DOI：
10.1111/bjd.21695
发表时间：
2022-11
期刊：
BRITISH JOURNAL OF DERMATOLOGY
影响因子：
10.3
作者：
Bonds, Pauleatha Diggs;Huang, Joyce;Ike, Jacqueline;Mukherjee, Eric;Petukhova, Lynn;Wheless, Lee
通讯作者：
Wheless, Lee

Clinical translation of hidradenitis suppurativa genetic studies requires global collaboration.