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Human Craniosynostosis Atlas (HuCA) : Standardizing & Establishing a Public Repository for Genomic and Imaging data

Award Number: R21DE033851
ORGANIZATION: NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/19/2024
PERIOD OF PERFORMANCE END DATE: 08/31/2027

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Human Craniosynostosis Atlas (HuCA) : Standardizing & Establishing a Public Repository for Genomic and Imaging data - R21: Human Craniosynostosis Atlas (HuCA) : Standardizing & Establishing a Public Repository for Genomic and Imaging data. Project Abstract: Craniosynostosis is a premature fusion of the cranial sutures which affects approximately 1 in 2000 babies each year. Left untreated, significant skeletal, respiratory, ocular, and neurocognitive abnormalities can result. Surgical treatment is usually offered in the first year of life to mitigate these consequences. There is a wide genotypic and phenotypic presentation and to date there is insufficient characterization of the disease in children, and its effects on the brain. The Human Craniosynostosis Atlas (HuCA) as put forth in this proposal seeks to remedy this gap in knowledge by creating community resource with standards for data acquisition, which will allow for a diverse array of sites to gather CT, multi-contrast MRI, and genomic data in individual patients, which can be analyzed in concert. We ultimately seek to improve the characterization & understanding of all types of craniosynostosis through systematic neuroimaging and genotyping shared with the scientific community through the existing NIH-NIDCR biorepository, FaceBase 3. We propose to create the first publicly accessible repository of comprehensive human data for the purpose of broadly, yet deeply characterizing all types of craniosynostosis. Specific Aim 1 will focus on neuroimaging and establish low dose head CT protocols to verify diagnosis and allow head shape analysis. Brain structure and function will be assayed with MRI based on the Healthy Brain and Child Development (HBCD) protocol for developing brains and will be extended to the craniosynostosis population. Sequences will include anatomical imaging (T1, T2), functional (resting state fMRI), and microstructural (multi-shell HARDI) imaging. Specific Aim 2 will focus on a genomic characterization of the affected child and biological parents ( a trio) using a standard protocol of acquisition from subjects’ cheek swab to whole genome sequencing (WGS) with standard coverage, (99%) & depth (30x). Output will be standardized file formats to include VCF, FASTQ and BAM files and transferred to FaceBase for preliminary variant analysis. Aim 3 will focus on HIPPA compliant data transfer to Facebase of neuroimaging and genomic information data of babies with all types of infants with craniosynostosis. It will also codify and publicize the data acquisition protocols and quality standards as a pre-requisite for contribution to HuCA. A new web landing page for HuCA will be built allowing permitted researchers to access the data in an intuitive and interactive way, filterable by metadata. The synergy of CT, MRI and genomic data will enable Facebase to house and share an unprecedented complement of multi-dimensional information about craniosynostosis that can improve fundamental knowledge and classification of disease. A clear pathway and protocol for data contribution and sharing will enable the large- sample size study needed for both conventional and AI/ML/DL analysis. When a clinician is newly faced with a baby with craniosynostosis, they will benefit from a vastly improved understanding of the condition at baseline and thus may be able to better predict and optimize outcomes given a particular treatment.


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: 2026 ( Subtotal = $0 )
2026	2025	VANDERBILT UNIVERSITY MEDICAL CENTER	1161 21ST AVE S STE D3300 MCN	NASHVILLE	TN	37232	DAVIDSON	USA	Oral Diseases and Disorders Research	001	2	4/22/2026	NON-COMPETING CONTINUATION	$0
2026	2025	VANDERBILT UNIVERSITY MEDICAL CENTER	1161 21ST AVE S STE D3300 MCN	NASHVILLE	TN	37232	DAVIDSON	USA	Oral Diseases and Disorders Research	000	2	12/4/2025	NON-COMPETING CONTINUATION	$0
2026	2025	VANDERBILT UNIVERSITY MEDICAL CENTER	1161 21ST AVE S STE D3300 MCN	NASHVILLE	TN	37232	DAVIDSON	USA	Oral Diseases and Disorders Research	002	2	6/22/2026	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2025 ( Subtotal = $222,835 )
2025	2025	VANDERBILT UNIVERSITY MEDICAL CENTER	1161 21ST AVE S STE D3300 MCN	NASHVILLE	TN	37232	DAVIDSON	USA	Oral Diseases and Disorders Research	001	2	7/28/2025	NON-COMPETING CONTINUATION	$222,835
2025	2024	VANDERBILT UNIVERSITY MEDICAL CENTER	1161 21ST AVE S STE D3300 MCN	NASHVILLE	TN	37232	DAVIDSON	USA	Oral Diseases and Disorders Research	000	1	10/25/2024	NEW	$0
														Subtotal = $222,835

Issue Date FY: 2024 ( Subtotal = $275,405 )
2024	2024	VANDERBILT UNIVERSITY MEDICAL CENTER	1161 21ST AVE S STE D3300 MCN	NASHVILLE	TN	37232	DAVIDSON	USA	Oral Diseases and Disorders Research	000	1	9/19/2024	NEW	$275,405
														Subtotal = $275,405

Grand Total All Awards = $498,240

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Human Craniosynostosis Atlas (HuCA) : Standardizing & Establishing a Public Repository for Genomic and Imaging data

Award Number: R21DE033851

ORGANIZATION: NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 09/19/2024

PERIOD OF PERFORMANCE END DATE: 08/31/2027

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