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The PSC scientific community resource: an asset for multi-omics interrogation of primary sclerosing cholangitis
BMC Gastroenterology ( IF 2.4 ) Pub Date : 2021-09-25 , DOI: 10.1186/s12876-021-01930-2
Ahmad Hassan Ali 1 , Brian D Juran 1 , Erik M Schlicht 1 , Jackie K Bianchi 1 , Bryan M McCauley 2 , Elizabeth J Atkinson 2 , Konstantinos N Lazaridis 1
Affiliation  

Primary sclerosing cholangitis (PSC) is a rare, chronic cholestatic liver disease that often progresses to end-stage liver disease and/or the development of hepatobiliary neoplasia. Lack of prognostic tools and treatment options for PSC is driven in part by our poor understanding of its pathogenesis, which is thought to be complex, the interaction of genetic variants, environmental influences and biological response throughout the course of disease. The PSC Scientific Community Resource (PSC-SCR) seeks to overcome previous shortcomings by facilitating novel research in PSC with the ultimate goals of individualizing patient care and improving patient outcomes. PSC patients who receive their health care at Mayo Clinic or a collaborating site are identified by chart review and invited in person or by mail to participate. Non-Mayo patients are offered enrollment if they provide sufficient access to their medical records to evaluate inclusion/exclusion criteria. Controls without liver disease are identified with assistance of the Mayo Clinic Biobank. Participant consent is obtained at the beginning of the recruitment process by mail-in, electronic or face-to-face protocols. Clinical data is extracted from the medical record by qualified physicians and entered in a custom designed database. Participants fill out a custom-designed, comprehensive questionnaire, which collects scientifically relevant demographic and clinical information. Biospecimens are collected using mail-in kits thar are returned via overnight carrier service and processed by the biospecimen accessioning and processing facility at Mayo Clinic, which coordinates sample transfers and provides required sample preparation services. The resource is currently being utilized to perform omics-scale projects investigating the exposome, metabolome, methylome, immunome and microbiome in PSC. Datasets and residual biospecimens will be shared with researchers proposing scientifically sound PSC-focused research with approval of the appropriate review boards. Patient-based studies leveraging the latest technologies for targeted and wide-scale interrogation of multiple omics layers offer promise to accelerate PSC research through discovery of unappreciated aspects of disease pathogenesis. However, the rarity of PSC severely limits such studies. Here we describe our effort to overcome this limitation, the PSC-SCR, a repository of patient biospecimens coupled with clinical and omics data for use by the broader PSC research community.

中文翻译:

PSC 科学界资源:原发性硬化性胆管炎多组学研究的资产

原发性硬化性胆管炎 (PSC) 是一种罕见的慢性胆汁淤积性肝病,通常进展为终末期肝病和/或发展为肝胆肿瘤。PSC 缺乏预后工具和治疗方案的部分原因是我们对其发病机制缺乏了解,这被认为是复杂的,遗传变异的相互作用、环境影响和整个疾病过程中的生物反应。PSC 科学社区资源 (PSC-SCR) 旨在通过促进 PSC 的新研究来克服以前的缺点,最终目标是个性化患者护理和改善患者预后。在 Mayo Clinic 或合作站点接受医疗保健的 PSC 患者将通过图表审查确定并亲自或通过邮件邀请参与。如果非梅奥患者提供足够的医疗记录访问权限以评估纳入/排除标准,则他们可以注册。在 Mayo Clinic Biobank 的帮助下确定没有肝病的对照。在招聘过程开始时通过邮寄、电子或面对面协议获得参与者同意。临床数据由合格的医生从病历中提取,并输入定制设计的数据库中。参与者填写一份定制设计的综合问卷,该问卷收集科学相关的人口统计和临床信息。使用邮寄套件收集生物样本,并通过隔夜承运服务返回,并由梅奥诊所的生物样本采集和处理设施进行处理,协调样品转移并提供所需的样品制备服务。该资源目前被用于开展组学规模的项目,研究 PSC 中的暴露组、代谢组、甲基化组、免疫组和微生物组。数据集和剩余生物样本将与提出科学合理的以 PSC 为重点的研究的研究人员共享,并获得适当的审查委员会的批准。以患者为基础的研究利用最新技术对多个组学层进行有针对性和大规模的询问,通过发现疾病发病机制中未被重视的方面,有望加速 PSC 研究。然而,PSC 的罕见性严重限制了此类研究。在这里,我们描述了我们克服这一限制的努力,PSC-SCR,
更新日期:2021-09-28
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