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Curation of Model Organism Phenotype and Disease Model Data to Augment Gabriella Miller Kid's First Data Sets for Enhanced Discovery and Therapeutic Development

Award Number: R03OD033657
ORGANIZATION: OFFICE OF THE DIRECTOR, NIH
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

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PROJECT SUMMARY Children born with structural birth defects have an increased risk of developing pediatric cancer, implicating shared genetic pathways between these two disorders. However, studying these diseases can be challenging due to the limited amount of pediatric data available. Model organisms are increasingly used to understand the genetic basis of human disease, providing effective tools for functional and phenotypic validation as well as discovery of potential biomarkers and therapeutic targets. The Gabriella Miller Kids First Data Resource Center currently houses human pediatric cancer and birth defect data sets but lacks access to valuable model organism data. The overall objective of this proposal is to deliver focused literature curation of mouse and zebrafish disease models of childhood cancer and structural birth defects to increase the availability of model organism data, and to provide access to all model organism data relevant to cancer and structural birth defects in the Alliance of Genome Resources. Specific Aim 1 is to provide focused literature curation of animal models of diseases relevant to childhood cancer and structural birth defects. Specifically, a) focused literature curation of mouse and zebrafish genes and models of interest to childhood cancer and structural birth defects will be conducted; and b) mouse and zebrafish disease and phenotype ontologies and term relationships will be expanded to support curation and cross-species analysis. Specific Aim 2 is to provide a customized search portal for Alliance model organism gene and disease model data related to childhood cancer and structural birth defects. Specifically, a) gene and disease page portals to Alliance data will be created, accessing information on genes, disease models and literature relevant to childhood cancer and structural birth defects; and b) information on availability of disease models and the researchers using these models will be provided. Using model organism data relevant to childhood cancer and structural birth defects to fill in gaps of knowledge will lead to a deeper understanding of these conditions, aiding in the discovery of biomarkers and potential therapeutic targets as well as providing effective tools for functional and phenotypic validation enabling the development of precision-based interventions for these pediatric diseases.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2023 ( Subtotal = $160,300 )
2023	2023	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Trans-NIH Research Support	000	2	3/25/2023	NON-COMPETING CONTINUATION	$160,300
														Subtotal = $160,300

Issue Date FY: 2022 ( Subtotal = $178,575 )
2022	2022	THE JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Trans-NIH Research Support	000	1	3/15/2022	NEW	$162,545
2022	2022	THE JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Trans-NIH Research Support	001	1	6/28/2022	NEW	$16,030
														Subtotal = $178,575

Grand Total All Awards = $338,875

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Curation of Model Organism Phenotype and Disease Model Data to Augment Gabriella Miller Kid's First Data Sets for Enhanced Discovery and Therapeutic Development

Award Number: R03OD033657

ORGANIZATION: OFFICE OF THE DIRECTOR, NIH

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

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