The Alzheimer’s Disease (AD) Sequencing Project (ADSP) was initiated in 2012 with a focus on identifying novel genes driving risk and resilience in AD and related dementias (ADRD). To date, the ADSP has curated sequencing data from 20,000+ individuals from 39 cohorts, which will increase to 100,000 participants across 70+ cohorts by 2023. The ADSP has focused primarily on AD case/control phenotypes derived from clinical data; however, advancements in our understanding of AD and movement toward a biological definition that integrates pathological and neurodegenerative aspects of the disease, many of which precede clinical symptoms by decades, has presented an opportunity and pressing need to integrate rich endophenotypic data and characterize the genetic architecture of these complex biological cascades in ADRD.
The ADSP Phenotype Harmonization Consortium (ADSP-PHC, U24-AG074855) was established in response to PAR-20-099 to harmonize the rich endophenotype data across cohort studies to enable modern genomic analyses of ADRD. The mission of the ADSP-PHC is to work in coordination with other ADSP workgroups and initiatives to streamline access to endophenotype data, provide high quality phenotype harmonization across domains, and provide comprehensive documentation of both data availability and harmonization procedures, with the goal of generating harmonized data that will become a “legacy” dataset perpetually curated and shared through NIAGADS.
The aims of the ADSP-PHC are below:
- Procure, collate and curate endophenotype data from ADSP cohort studies.
- Harmonize data from ADSP cohort studies leveraging advanced statistical approaches.
- Disseminate harmonized phenotypes and harmonization protocols to the research community.
- Educate the research community on available harmonized resources and best practices.