# Genetics and proteomics of a craniofacial ciliopathy

> **NIH NIH F31** · UNIVERSITY OF TEXAS AT AUSTIN · 2021 · $37,436

## Abstract

PROJECT SUMMARY/ABSTRACT
Craniofacial dysmorphologies are among the most common features of developmental disorders, and
often have profound and enduring effects on quality of life. Such are a common feature of ciliopathic
syndromes, a class of phenotypically variable developmental disorders caused by defects of the primary
cilium. However, the developmental causes of ciliopathic craniofacial anomalies are not well
characterized.
Ciliopathy patients with mutations in a poorly characterized gene, Wdpcp, often present with craniofacial
dysmorphologies. However, the role of Wdpcp in craniofacial development has never been directly
studied. Here, I plan to use a Wdpcp loss of function mouse line to characterize the embryological
progression of the observed dysmorphologies. I will utilize mouse genetics to probe for genetic
interactions that may modulate phenotypes in human patients. Lastly, I will interrogate the mechanism of
pathogenesis of diseases mutations through cell biology and proteomic experiments. Successful
completion of these aims will provide valuable insights into the underlying molecular, cellular, and
anatomical causes of craniofacial dysmorphologies observed in Wdpcp ciliopathy patients.

## Key facts

- **NIH application ID:** 10145646
- **Project number:** 5F31DE029114-03
- **Recipient organization:** UNIVERSITY OF TEXAS AT AUSTIN
- **Principal Investigator:** Janelle Leggere
- **Activity code:** F31 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $37,436
- **Award type:** 5
- **Project period:** 2019-06-01 → 2022-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10145646

## Citation

> US National Institutes of Health, RePORTER application 10145646, Genetics and proteomics of a craniofacial ciliopathy (5F31DE029114-03). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10145646. Licensed CC0.

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