The University of Alabama at Birmingham (UAB) has been awarded a $602,956 Project Grant by the National Institute of Child Health and Human Development under the Child Health and Human Development Extramural Research program (CFDA 93.865). This 5-year grant, effective September 6, 2024, will fund research focused on understanding the molecular pathways and functional impact of genetic variants associated with ciliopathy-related structural birth defects. Key objectives include:
- Identifying and characterizing genetic variants of unknown significance in known ciliopathy genes as well as novel candidate ciliopathy genes
- Assessing the pathogenicity of prioritized variants through in vitro and in vivo zebrafish and mouse model testing
- Analyzing the impact of variants on cilia assembly, morphology, specialized sub-compartments, and disruption of protein interaction networks
- Determining the effect of variants on developmental signaling pathways regulated by cilia
The research outcomes are expected to uncover new insights into cilia protein interactions and functions, support diagnostic capabilities for ciliopathy-associated birth defects, and generate data to inform potential therapeutic strategies. The award leverages UAB's expertise in medicine, genetics, computational biology, and animal model development.
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