Core Projects of FunGen-AD
The xQTL project
The xQTL project is a collaborative effort across the FunGen-AD, the AMP-AD, the NIH CARD, and the ADSP. The goal of the xQTL project is to generate a reference map of AD-related QTLs to determine the effect of genetic variation on molecular traits. This project builds on existing datasets from multiple omics layers including bulk and single cell transcriptomics, epigenomics, proteomics, lipidomics, and metabolomics and from multiple tissues including brain, CSF, and plasma. The multi-omic approach will enable mapping the propagation of functional consequences of each variant, which will be instrumental to identifying the causal gene(s) in each locus as well as novel biomarkers and therapeutic targets for AD/ADRD. The xQTL reference map will be made available to the AD and the general scientific community.
Drs. Philip De Jager and Carlos Cruchaga are the leads for this project.
Collaboration with other consortia
The FunGen-AD investigators closely work with the ADSP geneticists, the ADSP ML/AI consortium, and the National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) through working groups to coordinate efforts and create resources to support the mission of the ADSP. In addition, the FunGen-AD consortium engage and collaborate with the Accelerating Medicines Partnership® Alzheimer’s Disease (AMP® AD) and the NIH Center for Alzheimer’s and Related Dementias (CARD) through complementary approaches to accelerate translational research for AD/ADRD.
Functional Genomics Working Group
The Functional Genomics Working Group consists of ADSP investigators who are conducting or interested in projects that study functional impacts of AD genes or variants.
The group was formed in summer of 2020. Current activities include the following:
- Serve as a venue to coordinate ongoing functional genomic efforts within the FunGen-AD and with other relevant consortia to facilitate synergy and collaboration.
- Develop a consensus list of loci with prioritized variants and genes based on human genetic data and existing evidence to support functional annotation.
- Identify current gaps in knowledge where additional resources may be most impactful.
- Disseminate prioritized target genes and variants to facilitate the work of other AD investigators and the broader research community pursuing functional studies.
- Communicate with other ADSP Working Groups to ensure timely information exchange and identify opportunities for collaboration.
xQTL Working Group
The xQTL Working Group is a group of investigators that carry out the activities defined in the xQTL project. The group was formed in spring of 2021. Current activities include the following:
- Catalog and gather genetic, genomic, and multi-omic data that have been generated by its members and other relevant datasets that are publicly available.
- Process and harmonize these data for integration and analysis.
- Identify analytical methods for QTL mapping and integration across multi-omic data types.
Data Standardization Working Group
The Data Standardization Working Group is a group of investigators that develop data standards to facilitate data collection, integration, and sharing with the AD and the broader research community. The group was formed in summer of 2021. Current activities include the following:
- Define data format and meta-data definitions.
- Define SOP for receiving data, quality check and maintenance.