Vanderbilt Center for Undiagnosed Diseases (VCUD)

范德比尔特未确诊疾病中心 (VCUD)

• 批准号: 9301691
• 负责人: RIZWAN HAMID
• 金额: $ 209.41万
• 依托单位: VANDERBILT UNIVERSITY MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-07-01 至 2018-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9301691
• 关键词: Adult; Affect; Age; Award; Candidate Disease Gene; Caregivers; Caring; Childhood; Clinical; Clinical Research; Clinical Sciences; Clinical Trials; Clinical and Translational Science Awards; Collaborations; Communication; Computerized Medical Record; Coordination and Collaboration; Counseling; Country; DNA; DNA Databases; Data; Databases; Development; Diagnosis; Diagnostic; Diagnostic Procedure; Diagnostic tests; Diagnostics Research; Disease; Electronics; Ensure; Environmental Exposure; Etiology; Expert Systems; Family; Figs - dietary; Fostering; Functional disorder; Funding; Genetic Variation; Genotype; Glean; Goals; Growth and Development function; Health; Human; Human Genome Project; Individual; Link; Mass Spectrum Analysis; Measures; Outcome; Patient Care; Patients; Persons; Pharmaceutical Preparations; Phenotype; Physicians; Population; Protocols documentation; Provider; Rare Diseases; Recording of previous events; Recruitment Activity; Research; Research Infrastructure; Resolution; Resources; Sampling; Scientist; Signs and Symptoms; Specialist; Structure; System; Test Result; Testing; Time; Translational Research; United States National Institutes of Health; arm; clinical research site; cohort; data management; data sharing; diagnosis evaluation; exhaust; exome; exome sequencing; experience; genetic variant; global health; health record; imaging genetics; improved; medical specialties; patient oriented; personalized medicine; programs; repository; research study; response; skills; time use; tool

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.

描述（由申请人提供）：范德比尔特未诊断疾病中心（VCUD）：将NIH未诊断疾病计划扩展为未诊断疾病网络（UDN）将为UD患者带来专业知识和富有同情心的护理，给他们带来希望并改善他们的生活。范德比尔特是VCUD（我们的UDN临床研究中心）成长和发展的理想环境，因为我们的文化促进了以患者为导向的卓越护理和研究。我们有一个大型和富有成效的临床和转化科学奖（CTSA），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医生科学家，他们的诊断和研究技能广泛而深入。我们将把联合收割机建立的范德比尔特资源，包括StarPanel电子病历（EMR）、REDCap数据库系统和BioVU DNA数据库与其他范德比尔特资产结合起来，以创建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，我们将利用范德比尔特VICTR工作室和质谱研究中心来发现新疾病并促进转化研究，从而找到新的治疗方法。我们还将测试我们在超过13，000个UD候选基因中发现的遗传变异，很快将在我们的BioVU系统中超过40，000个外显子组中发现，该系统将去识别的EMR与来自超过166，000名范德比尔特患者的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具有表型相似性的患者，以及， 罕见疾病（RD）和新疾病（ND）可能包括在特定UD中。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将通过成为人类基因组计划的临床分支，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，为UDN做出贡献。为了开发VCUD，我们将利用范德比尔特的独特资源，通过以下具体目标有效诊断所有年龄段的UD患者并促进UDN的开发：1）使用正确的VCUD团队改善儿科和成人UD患者的诊断和护理，以便首次使用ResearchMatch，StarPanel和REDCap做出正确的诊断; 2）通过收集和与UDN共享数据来确定UD的病因;并确定病理生理学，并开发更好的诊断和治疗方案，包括通过使用VICTR Studios将多个范德比尔特资源集中在UD上的临床试验;和3）使用范德比尔特质谱研究中心、BioVU储存库和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。