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

> **NIH NIH R21** · VANDERBILT UNIVERSITY MEDICAL CENTER · 2024 · $275,405

## Abstract

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 la...

## Key facts

- **NIH application ID:** 11058170
- **Project number:** 1R21DE033851-01A1
- **Recipient organization:** VANDERBILT UNIVERSITY MEDICAL CENTER
- **Principal Investigator:** MICHAEL S GOLINKO
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $275,405
- **Award type:** 1
- **Project period:** 2024-09-19 → 2026-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11058170

## Citation

> US National Institutes of Health, RePORTER application 11058170, Human Craniosynostosis Atlas (HuCA) : Standardizing & Establishing a Public  Repository for  Genomic and Imaging data (1R21DE033851-01A1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/11058170. Licensed CC0.

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