A National Registry to Support Sarcoidosis Investigations

描述（由申请人提供）：本申请的目的是支持艾丽西亚·格克博士的职业发展。Gerke博士的长期职业目标是成为一名全国公认的临床研究者，使用新颖的基于互联网的研究技术来识别罕见疾病的诊断和预后的临床和遗传风险因素。Gerke博士组建了一个经验丰富的导师团队。James Torner, Jeffrey Murray， Philip Polgreen和Martha Monick)，他们带来了互补方法学领域的专业知识和培养年轻研究者的经验。使用最近开发的国家结节病登记，她将描述全国范围内的疾病特征，并确定与结果相关的临床和遗传标记。在获奖期间，Gerke博士将成为以下方面的专家：1)使用互联网辅助（电子卫生）研究的基于患者的调查，2)用于互联网研究的先进临床流行病学方法，以及3)识别疾病预后和结果风险的遗传标记。这些目标将通过她的导师指导下的课程作业、阅读和研究经验来完成。因为像结节病这样的罕见疾病很难进行临床试验，所以很多临床管理都是由专家意见决定的。迄今为止，全国不同的诊断和治疗方法的结果在很大程度上是未知的。Gerke博士将使用结节病登记来收集全国大型结节病患者队列的数据，以便首先了解全国诊断和治疗实践的可变性，然后确定与需要长期治疗的进展性疾病相关的临床和遗传标记。对于目标1，Gerke博士将利用互联网和基于电子健康的研究方法扩大现有注册表的招聘。目的2将使用登记数据来确定结节病患者的诊断途径，并确定与诊断延误相关的风险。目标3将描述全国范围内的治疗差异，并确定与不良结果相关的治疗相关做法。目的4将使用来自注册生物库的DNA标本来确定与结节病患者的诊断和预后相关的DNA甲基化模式。这些项目对于在全国范围内探索结节病患者的特征，并为未来的临床试验确定适当的临床和遗传标记的适当表型具有重要意义。完成这些目标将

DESCRIPTION (provided by applicant): The objective of this application is to support the career development of Dr. Alicia Gerke. Dr. Gerke's long term career goal is to become a nationally recognized clinical investigator in identifying clinical and genetic risk factors for diagnosis and prognosis of rare diseases using novel internet-based research techniques. Dr. Gerke has assembled a team of experienced mentors (Drs. James Torner, Jeffrey Murray, Philip Polgreen, and Martha Monick) who bring expertise in complementary methodological areas and experience in nurturing young investigators. Using a recently developed national sarcoidosis registry, she will describe characteristics of the disease across the nation and identify clinical and genetic markers associated with outcomes. During the award, Dr. Gerke will become an expert in: 1) Patient-based investigation using internet-assisted (e-health) research, 2) Advanced clinical epidemiology methods for use in internet research, and 3) Identifying genetic markers of risk for disease prognosis and outcomes. These goals will be accomplished by coursework, readings, and research experiences guided by her mentors. Because clinical trials are difficult to perform in rare diseases such as sarcoidosis, much of clinical management is dictated by expert opinion. To date, the outcomes of varying diagnostic and treatment practices across the nation are largely unknown. Dr. Gerke will be using a sarcoidosis disease registry to aggregate data on a large national cohort of sarcoidosis patients in order to, first, understand the variability of diagnostic and treatment practices across the nation, and then, to identify clinical and genetic markers associated with progressive disease requiring long-term treatment. For Aim 1, Dr. Gerke will be expanding recruitment on an existing registry using internet and e-health based research approaches. Aim 2 will use registry data to define the pathways of diagnosis for sarcoidosis patients and establish risks associated with delays in diagnosis. Aim 3 will describe the treatment variability across the nation and identify treatment related practices associated with adverse outcomes. Aim 4 will be using DNA specimens from the registry biorepository to identify DNA methylation patterns that are associated with diagnosis and prognosis of patients with sarcoidosis. These projects are important to explore the characteristics of sarcoidosis patients on a national scale and identifying appropriate clinical an genetic markers of appropriate phenotypes for future clinical trials. Completion of these aims will provide the foundation for an independent research career for Dr. Gerke. Dr. Gerke's mentors and institution are committed to her success with resources and the environment in place to facilitate her career development.