Document text
Principal Investigator: MICHAEL L BOEHNKE
Organization: BROAD INSTITUTE, INC.
Fiscal Year: 2024
Award: $3,320,255
Funding agency: National Institute of Diabetes and Digestive and Kidney Diseases
Abstract
Despite much progress in mapping genetic associations for T2D, its complications, and related traits,
the underlying causal variants, effector genes, and gene networks are not well understood. The AMP-T2D
consortium aims to accelerate the pace by which these disease mechanisms are elucidated, through
generation and integration of novel genomic data interrogating genetic associations. This project addresses
RFA-DK-19-505 “Limited Competition for the Accelerating Medicines Partnership (AMP) in Type 2 Diabetes
Knowledge Portal (UM1)” and will be conducted by the leaders of the current AMP T2D Knowledge Portal
(T2DKP). Its goal is to continue development of the T2DKP by enhancing its infrastructure to aggregate,
analyze, and visualize genetic and genomic datasets and results, thereby helping to identify causal risk
variants and effector genes for T2D and its complications.
The goal of specific aim 1 is to enhance the data and knowledge base for the T2DKP. It will enhance
the T2DKP software platform to represent additional classes of ‘omic and phenotypic data, integrate datasets
relevant to AMP-T2D within a federated data warehouse, develop new methods and analytical pipelines to
analyze these data, and enable them to be accessed by download or application programming interfaces
(APIs). The goal of specific aim 2 is to enhance the publicly accessible T2DKP web interface. It will develop
new web modules to visualize datasets within the T2DKP, extend the T2DKP with tools from external public
genomic databases, maintain curated knowledge lists for T2D and its complications, allow users to customize
data and tools shown within the T2DKP, and update the T2DKP in response to stakeholder feedback. The goal
of specific aim 3 is to coordinate the AMP-T2D consortium. It will provide operational support for AMP-T2D
investigators, foster collaborations with external partners, track and ensure the timely release of AMP-T2D
datasets, administer an opportunity pool to fund additional AMP-T2D projects, and conduct outreach and
training on the T2DKP.
Significance: The project would extend the T2DKP with new capabilities to integrate and display
datasets with information regarding causal variants, effector transcripts, and gene networks for T2D and its
complications. Public access to these data and results will significantly accelerate efforts to identify new
therapeutic strategies to prevent, treat, or reverse T2D and its complications.
Terms: <Acceleration><Address><Adult-Onset Diabetes Mellitus><Bio-Informatics><Bioinformatics><Biological><Biology><California><Chromosome Mapping><Collaborations><Complex><Computer software><Data><Data Analyses><Data Analysis><Data Bases><Data Display><Data Set><Databases><Development><Disease><Disorder><Education and Outreach><Ensure><European><Feedback><Fostering><Foundations><Funding><Gene Localization><Gene Mapping><Gene Mapping Genetics><Generations><Genes><Genetic><Genomics><Genotype><Goals><Individual><Infrastructure><Instruction and Outreach><Internet><Investigators><Ketosis-Resistant Diabetes Mellitus><Knowledge Portal><Knowledge base Portal><Knowledgebase Portal><LEU5><Link><Linkage Mapping><Maturity-Onset Diabetes Mellitus><Medicine><Methods><NIDDK><NIDDM><National Institute of Diabetes and Digestive and Kidney Diseases><Non-Insulin Dependent Diabetes><Non-Insulin-Dependent Diabetes Mellitus><Noninsulin Dependent Diabetes><Noninsulin Dependent Diabetes Mellitus><Pattern><Predisposition gene><Protocol><Protocols documentation><RFP2><RFP2 gene><Research Personnel><Research Resources><Researchers><Resources><Risk-associated variant><Slow-Onset Diabetes Mellitus><Software><Source><Specific qualifier value><Specified><Stable Diabetes Mellitus><Susceptibility Gene><T2 DM><T2D><T2DM><TRIM13><Therapeutic><Total Human and Non-Human Gene Mapping><Training and Outreach><Transcript><Tutoring and Outreach><Type 2 Diabetes Mellitus><Type 2 diabetes><Type II Diabetes Mellitus><Type II diabetes><Universities><Update><Variant><Variation><Visualization><WWW><adult onset diabetes><application program interface><application programming interface><biologic><causal allele><causal gene><causal mutation><causal variant><causative mutation><causative variant><data access><data base><data integration><data interpretation><data portal><data sharing portal><data visualization><data warehouse><develop software><developing computer software><developmental><federated data><functional genomics><gene network><genetic association><genetic mapping><genome resource><genomic data><genomic data resource><genomic data-set><genomic dataset><genomic resource><genomic sequencing resource><human disease><internet portal><ketosis resistant diabetes><knowledge base><knowledge curation><maturity onset diabetes><new drug target><new druggable target><new pharmacotherapy target><new therapeutic approach><new therapeutic intervention><new therapeutic strategies><new therapeutic target><new therapy approaches><new therapy target><new treatment approach><new treatment strategy><novel><novel drug target><novel druggable target><novel pharmacotherapy target><novel therapeutic approach><novel therapeutic intervention><novel therapeutic strategies><novel therapeutic target><novel therapy approach><novel therapy target><on-line portal><online portal><phenotypic data><predisposing gene><prevent><preventing><programs><response><risk allele><risk gene><risk genotype><risk loci><risk locus><risk variant><software development><susceptibility allele><susceptibility locus><susceptibility variant><tool><trait><type 2 DM><type II DM><type two diabetes><web><web interface><web portal><web-based portal><world wide web>