Biomarker and Neurogenetics Core

生物标志物和神经遗传学核心

• 批准号: 10590714
• 负责人: M. Ilyas Kamboh
• 金额: $ 32.21万
• 依托单位: UNIVERSITY OF PITTSBURGH AT PITTSBURGH
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-05-15 至 2025-02-28
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10590714
• 关键词: Alzheimer disease detection; Alzheimer' s Disease; Alzheimer' s disease patient; Alzheimer' s disease therapy; Alzheimer’s disease biomarker; Amyloid beta-Protein; Ancillary Study; Archives; Biological Assay; Biological Markers; Blood; Blood specimen; Cerebrospinal Fluid; Clinical; Collection; Complex; Country; DNA; DNA Library; Data; Dementia; Deposition; Development; Early Diagnosis; Enzyme-Linked Immunosorbent Assay; Funding; Future; Genes; Genetic; Genetic Diseases; Genetic Markers; Genetic Polymorphism; Genetic Risk; Genetic study; Genomics; Genotype; Goals; Grant; Image; Immunoprecipitation; Individual; International; Late Onset Alzheimer Disease; Light; Magnetic Resonance Imaging; Mass Spectrum Analysis; Measures; Medical; Medical Device; Methods; Multicenter Trials; Nerve Degeneration; Neuronal Injury; Participant; Pathologic; Performance; Phenotype; Pittsburgh Compound-B; Plasma; Play; Positron-Emission Tomography; Publications; Qualifying; RNA; Research; Research Personnel; Research Project Grants; Resources; Risk Marker; Role; Sample Size; Sampling; Site; Standardization; Techniques; Testing; Universities; Validation; Variant; blood-based biomarker; case control; cost; data management; endophenotype; genetic architecture; genome wide association study; mass spectrometer; neurofilament; neurofilament protein L; neurogenetics; neuroimaging; neuropathology; novel; research clinical testing; tau Proteins

Core G: Biomarker and Neurogenetics Core (BNGC): Summary/Abstract: The Biomarker and Neurogenetics (BNG) Core builds on the existing strengths of genetics of dementia and Alzheimer’s disease (AD) biomarkers at the University of Pittsburgh. Over nearly 25 years, we have amassed DNA and plasma samples along with endophenotype data from approximately 12,000 University of Pittsburgh ADRC (PITT-ADRC) and non-ADRC participants. This rich resource has enabled our research team to play a significant role in understanding the complex genetic architecture of late-onset AD and AD-related endophenotypes. The goal of the BNG Core is to continue collecting and archiving DNA and blood samples from new and existing AD patients and controls in order to enlarge case-control and endophenotype samples and to augment the amount of existing DNA and plasma that would be critical to current and future efforts in identifying new genetic markers and plasma biomarkers for AD in Pittsburgh and at external sites. Specifically, we will collect and bank DNA and plasma from blood samples and obtain endophenotype data from ADRC and non-ADRC ancillary studies (aim1); generate APOE and other new genetic risk markers associated with AD and provide the genetic data to qualified investigators (aim 2); and generate plasma Aβ and neurofilament light (NFL) biomarkers data and provide this to studies assessing the utility of blood-based biomarkers to predict individual Aβ and tau deposition, as well as neurodegeneration, as determined by PET and MRI imaging.

核心G：生物标志物和神经遗传学核心（BNGC）：总结/摘要： 生物标志物和神经遗传学 (BNG)核心建立在痴呆症和阿尔茨海默病（AD）生物标志物遗传学的现有优势之上 在匹兹堡大学。近25年来，我们收集了沿着的DNA和血浆样本， 来自匹兹堡大学ADRC（PITT-ADRC）和非ADRC的约12，000例内表型数据 参与者这一丰富的资源使我们的研究团队能够在了解 迟发性AD和AD相关内表型的复杂遗传结构。BNG核心的目标是 继续收集和存档新的和现有的AD患者和对照组的DNA和血液样本， 为了扩大病例对照和内表型样本，增加现有DNA的数量， 血浆，这将是至关重要的，目前和未来的努力，在确定新的遗传标记和血浆 匹兹堡和外部站点的AD生物标志物。具体来说，我们将收集和银行的DNA和血浆 从血液样本中获得，并从ADRC和非ADRC辅助研究中获得内表型数据（aim 1）; 产生与AD相关的APOE和其他新的遗传风险标志物，并提供遗传数据， 合格的研究者（目标2）;并生成血浆Aβ和神经丝光（NFL）生物标志物数据， 为评估基于血液的生物标志物预测个体Aβ和tau的效用的研究提供了这一点 如通过PET和MRI成像所确定的那样，可以观察到神经变性、沉积以及神经变性。