Core H: Down Syndrome Cohort

核心 H：唐氏综合症队列

基本信息

批准号：
10378035
负责人：
IRA T. LOTT
金额：
$ 27.26万
依托单位：
UNIVERSITY OF CALIFORNIA-IRVINE
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：
2020-06-15 至 2025-02-28
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10378035
关键词：
18 year old Age Age-Years Alzheimer&apos s Disease Alzheimer&apos s disease risk Amyloid Amyloid Beta A4 Precursor Protein Attitude Biological Markers Birth Blood specimen Brain California Caspase Chromosome 21 Clinical Clinical Trials Consensus Data Set Dementia Dependence Development Disease Down Syndrome Enrollment Event Faculty Family Goals Individual Intellectual functioning disability Internet Life Longevity Magnetic Resonance Imaging Mission Neurologic Neurons Neuropsychological Tests Outcome Outcome Measure Oxidative Stress Participant Pathogenesis Persons Population Postdoctoral Fellow Precipitating Factors Prevalence Protocols documentation Questionnaires Research Research Personnel Resources Risk Risk Factors Sampling Scientist Special Population Standardization Structure Symptoms Training Universities clinical outcome measures cohort data sharing dementia risk education research experience feasibility testing innovation insight instrument interest neuropathology next generation student training tool white matter

项目摘要

Core H: Down Syndrome Core Project Summary/Abstract Since its inception, the UC Irvine Alzheimer Disease Research Center (ADRC) has included people with Down syndrome (DS) as a central focus of its research mission. Because of the triplication of the APP gene on chromosome 21, individuals with DS accumulate amyloid in the brain over the lifespan. This places people with DS at substantially increased risk for dementia. Yet, the age of symptom onset is variable and there is need for increased understanding of the temporal sequence of events in the AD pathogenesis as well as factors that precipitate dementia and protect against it. This application represents the launch of an independent DS Core in the ADRC, an exciting development that will increase opportunities for the study of DS and AD at UCI and beyond. Establishing a DS Core will facilitate interactions between this and other ADRC Cores, especially new cores being initiated, such as the Biomarker Core, and will enhance opportunities for data sharing. The DS Core will continue to engage in longitudinal research. The Core will expand the population enrolled, including participants as young as 18 years of age, to better elucidate the earliest possible stages of disease. Special emphasis will be placed on developing tools to facilitate multisite DS research, including clinical trials. As always, the expert investigators studying the DS and AD will contribute their unique expertise and experiences to training the next generation of clinicians and scientists. The DS Core will continue to provide unique insights into the understanding of AD.

核心H：唐氏综合症核心项目摘要/摘要自成立以来，加州大学尔湾分校阿尔茨海默氏病研究中心（ADRC）包括有关闭的人综合征（DS）是其研究任务的主要重点。由于应用基因在 21染色体，具有DS的个体在整个生命周期内积累了淀粉样蛋白。这使人们与 DS的痴呆风险大大增加。然而，症状发作的年龄是可变的，需要对AD发病机理中事件的时间序列的了解增加以及因素沉淀痴呆并防止痴呆症。该应用程序代表启动独立的DS核心在ADRC中，一个令人兴奋的发展将增加UCI和UCI和广告研究的机会超过。建立DS核心将有助于与其他ADRC核心之间的互动，尤其是新的核心启动核心，例如生物标志物核心，并将增加数据共享的机会。 DS 核心将继续进行纵向研究。核心将扩大入学人口，包括年仅18岁的参与者可以更好地阐明最早的疾病阶段。特别的将重点放在开发工具上，以促进多站点DS研究，包括临床试验。作为始终，研究DS和AD的专家调查人员将贡献其独特的专业知识和经验培训下一代临床医生和科学家。 DS核心将继续提供独特的见解进入对广告的理解。