Vanderbilt Center for Undiagnosed Diseases (VCUD)

描述(申请人提供)：Vanderbilt未诊断疾病中心(VCUD)：将NIH未诊断疾病计划扩展到未诊断疾病网络(UDN)将为UD患者带来专业知识和同情关怀，给他们带来希望并改善他们的生活。范德比尔特是我们的UDN临床网站VCUD成长和发展的理想环境，因为我们的文化培养了以患者为中心的护理和研究方面的卓越。我们有一个大型的、富有成效的临床和翻译科学奖(CTSA)，它主办了全国最大的临床研究中心(CRC)之一。我们的CTSA包括一批杰出的临床医生和内科科学家，他们的诊断和研究技能广泛而深刻。我们将把现有的Vanderbilt资源，包括StarPanel电子病历(EMR)、RedCap数据库系统和BioVU DNA数据库与Vanderbilt的其他资产结合起来，创建VCUD。VCUD将提供合适的团队，在第一时间为UD患者做出正确的诊断。然后，我们将使用Vanderbilt VICTR工作室和质谱学研究中心来发现新的疾病，并促进导致新治疗方法的转化性研究。我们还将在我们的BioVU系统中的13,000个&gt；13,000个外显子中检测我们在UD候选基因中发现的基因变异，该系统将未识别的EMR与&gt；166,000名Vanderbilt患者的DNA样本联系起来。我们的BioVU队列还将使我们能够识别与每个UD表型相似的患者，以及， 可能包括在特定UD中的罕见疾病(RD)和新疾病(ND)。然后，我们将使用BioVU数据和DNA来确定在VCUD患者中发现的显著等位基因变异对可能更常见的更一般表型的贡献。我们在范德比尔特拥有诊断、治疗和护理UD患者的经验和热情，我们期待着创建一个VCUD，为绝望的情况带来希望和解决方案，并促进与UDN的协同合作。VCUD将成为人类基因组计划的一个临床分支，有效地筛选、邀请、评估、诊断、咨询和协助UD患者及其医生最大限度地提高他们的生活质量，从而为UDN做出贡献。为了开发VCUD，我们将使用Vanderbilt的独特资源，这些资源将有效地诊断所有年龄段的UD患者，并通过以下具体目标促进UDN的发展：1)使用合适的VCUD团队使用ResearchMatch、StarPanel和RedCap在第一时间做出正确的诊断，改善儿童和成人UD患者的诊断和护理；2)通过收集数据并与UDN共享数据来确定UD的病因；确定病理生理学，并开发更好的诊断和治疗方案，包括通过使用VICTRStudios将多种Vanderbilt资源集中在UD上的临床试验；3)使用Vanderbilt质谱学研究中心、BioVU资料库和Vangard来发现、表征和确定新疾病和罕见疾病的非典型表现对影响许多患者的未诊断疾病的贡献。

DESCRIPTION (provided by applicant): Vanderbilt Center for Undiagnosed Diseases (VCUD): Expansion of the NIH Undiagnosed Disease Program to an Undiagnosed Disease Network (UDN) will bring expertise and compassionate care to UD patients, give them hope and improve their lives. Vanderbilt is an ideal milieu for the growth and development of the VCUD, our UDN Clinical Site, because our culture fosters excellence in patient oriented care and research. We have a large and productive Clinical and Translational Science Award (CTSA) that hosts one of the largest Clinical Research Centers (CRC) in the country. Our CTSA includes a cohort of outstanding clinicians and physician scientists whose diagnostic and research skills are broad and deep. We will combine established Vanderbilt resources including the StarPanel electronic medical record (EMR), the REDCap database system, and the BioVU DNA databank with other Vanderbilt assets to create the VCUD. The VCUD will provide the right team to make the right diagnosis for a UD patient the first time. We will then use Vanderbilt VICTR Studios and the Mass Spectrometry Research Center to discover new diseases and promote translational research that leads to new treatments. We will also test for genetic variations that we find in UD candidate genes in the >13,000, soon to be >40,000 exomes in our BioVU system that links de-identified EMRs to DNA samples from >166,000 Vanderbilt patients. Our BioVU cohort will also allow us to identify patients with phenotypic similarities to each UD, as well as, the Rare Diseases (RD) and New Diseases (ND) that may be included in a specific UD. We will then use the BioVU data and DNAs to determine the contribution of notable allelic variants found in VCUD patients to more general phenotypes that may be more common. We have experience with and a passion to diagnose, treat and care for UD patients at Vanderbilt and we look forward to creating a VCUD that brings hope and resolution to desperate situations and fosters synergistic collaboration with the UDN. The VCUD will contribute to the UDN by becoming a clinical arm of the Human Genome Project that efficiently screens, invites, evaluates, diagnoses, counsels and assists UD patients and their physicians in maximizing the quality of their lives. To develop the VCUD we will use unique resources at Vanderbilt that will efficiently diagnose UD patients of all ages and foster development of the UDN by the following Specific Aims: 1) Improve the diagnosis and care of pediatric and adult UD patients using the right VCUD team to make the right diagnosis the first time using ResearchMatch, StarPanel and REDCap; 2) Determine the etiology of UD by collecting and sharing data with the UDN; and determine the pathophysiology, and develop better diagnostic and treatment options, including clinical trials by using VICTR Studios to focus multiple Vanderbilt resources on UD; and 3) Use the Vanderbilt Mass Spectrometry Research Center, BioVU repository and VANGARD to discover, characterize and determine the contributions of both new diseases and atypical presentations of rare diseases to the Undiagnosed Diseases that affect many patients.