权益分类	功能权益	普通用户	{{item.name}}会员
{{category.name}}	{{benefitItem.name}}

Brain Bank Seq

脑库序列

基本信息

批准号：
10264673
负责人：
Andrew Singleton
金额：
$ 480.79万
依托单位：
NATIONAL INSTITUTE ON AGING
依托单位国家：
美国
项目类别：
财政年份：
资助国家：
美国
起止时间：
至
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10264673
关键词：
Alzheimer&apos s Disease Autopsy Base of the Brain Brain Collection Complex Consensus Custom DNA Data Data Set Dementia Diagnosis Disease model Ensure Foundations Future Gene Expression Genetic Genetic Predisposition to Disease Genome Genomics Genotype Histocytochemistry Individual LRRK2 gene Lewy Bodies Lewy Body Dementia Lewy Body Disease Logistics Medicine Methylation Molecular Mutation Neurochip Neurodegenerative Disorders Neurofibrillary Tangles Parkinson Disease Pathogenicity Pathologic Pathway interactions Patients Phenotype Prevention strategy Progressive Supranuclear Palsy Proteomics Research Design Research Personnel Resources Risk Sampling Senile Plaques Services Signal Transduction Specimen Syndrome System Tissues Universities Variant Work cloud based cloud platform comparative data portal database of Genotypes and Phenotypes design disease phenotype frontotemporal lobar dementia-amyotrophic lateral sclerosis genetic analysis genetic information genome sequencing genomic locus innovation insight molecular diagnostics nervous system disorder neurodegenerative dementia novel protein TDP-43 targeted treatment tau Proteins

项目摘要

We have previously performed a genetic analysis of pathogenic variants in neurodegenerative disease cases from the Johns Hopkins Brain Bank using the custom-generated NeuroChip genotyping array. From a logistics perspective, this study demonstrates our ability to work with an entire brain bank. Scientifically, our analysis revealed intriguing genotype-phenotype correlations, such as the molecular relationship of LRRK2 and progressive supranuclear palsy, thereby broadening disease phenotypes and highlighting the utility of genomics for molecular diagnostic purposes. In contrast to genotyping arrays, genome sequence data can be analyzed to discover new genetic changes. We will next perform sequencing with the Illumina NovaSeq 6000 platform. This project will generate high-quality data across a wide range of dementias and closely related neurodegenerative diseases, such as Alzheimer's disease, Lewy body diseases, FTD/ALS, complex dementia cases (consisting of individuals with more than one neurodegenerative disease), and rare neurodegenerative dementia syndromes. Detailed phenotype and neuropathological data are available for each sample.

我们之前使用定制的NeuroChip基因分型阵列对来自约翰霍普金斯脑库的神经退行性疾病病例的致病变异进行了遗传分析。从物流的角度来看，这项研究证明了我们与整个脑库合作的能力。科学上，我们的分析揭示了有趣的基因型-表型相关性，例如LRRK2与进行性核上性麻痹的分子关系，从而拓宽了疾病表型并突出了基因组学在分子诊断目的中的实用性。与基因分型阵列相比，基因组序列数据可以通过分析发现新的遗传变化。