The ADRC Human Genetics Core (HGC) was formed in a prior application to provide a centralized resource for the organization and analysis of genetic data for the entire ADRC, and to provide laboratory support for ADRC projects. The overall goal has been to facilitate the understanding of the associations between genetic variants and Alzheimer s disease or related neurodegenerative dementias, and to provide relevant information to investigators and patients and families. The HGC consists of components already well integrated into the Columbia ADRC. 1) A biorepository which includes data management to track biological sample inventories in coordination with the main ADRC database management core; 2) A statistical genetics and genetic epidemiology group to facilitate research involving genetic variables; 3) A board certified genetic counselor with expertise in neurodegenerative disorders available to help clinicians and affected families. Over the past funding cycle the HGC has created and maintained blood specimens (serum, plasma, DNA and immortalized cell lines (when requested) and cerebrospinal fluid) from all willing participants in the ADRC clinical core, Project 3 and all ADRC related studies. In the previous cycle we provided a source of DNA for planned genetic research in Project 3, and for the UDS and ADC collaborative projects, and the Alzheimer s Disease Genetic Consortium which was created to facilitate genetic research across all of the Alzheimer s Disease Centers. Dr. Mayeux, the HGC leader, is a senior co-investigator and member of the steering committee. He has played a major role in the design, and now the analyses, of the Alzheimer s Disease Sequencing Project, another project involving nearly all of the ADCs, epidemiological projects and other cohorts with well characterized cases and controls. The HGC prepared 353 samples from 68 families for the whole-genome sequencing experiment and over 4,000 samples for APOE genotyping. The investigators in this core also played major roles in the design of the Alzheimer s Disease Sequencing Project: Dr. Mayeux is leading the analysis of the family-based whole genome sequencing project of the Alzheimer s Disease Sequencing Project, Dr. Reitz, Co-Project Leader for Project 2 in this application, was involved in the design and will be involved in the analyses of the case-control whole exome project. Dr. Vardarajan, a co-investigator in this core was involved in the planning of the bioinformatics analyses for the family-based whole genome and the case-control whole exome studies as well as the structural variant analyses. The HGC has also been a resource for training of high school and college students in laboratory procedures such as sample preparation, extraction of DNA, banking of serum, plasma and cerebrospinal fluid.
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