# Discovery and characterization of novel ciliopathy protein complexes

> **NIH NIH R00** · UNIVERSITY OF ILLINOIS AT CHICAGO · 2023 · $238,762

## Abstract

Abstract
Ciliopathies are a collection of debilitating developmental disorders (e.g. Joubert syndrome, Meckel syndrome,
Bardet-Biedl syndrome, orofaciodigital syndrome, polycystic kidney disease) which have no cures and limited
but expensive treatments. Diagnosis and treatment is complicated due to ciliopathies causing multisystem
pathologies and having large variance in their clinical presentations potentially resulting in neural tube defects,
orofacial clefting, obesity, polycystic kidneys, retinal degeneration and in some cases, infant death. All
ciliopathies are caused by dysfunctional cilia, the microtubule based organelle critical for cell-to-cell signaling,
but currently there is limited understanding of the underlying molecular network responsible for proper cilia
function. Recently, large-scale proteomic techniques have advanced where it is now possible to query the
cell's molecular network and identify many new protein complexes. This proposal describes a research
program that will 1) construct a ciliary complex map using proteomic techniques, 2) functionally characterize
newly discovered ciliary complexes and 3) identify disruptions in complex assembly due to known ciliopathy
mutations. Additional products of the proposed research will include a compendium of proteomic data on
ciliated cells, statistical analysis tools for the discovery of protein complexes, functional characterization of
critical ciliary processes and a more complete understanding of the underlying molecular network of ciliopathy
disease states. This work aims to provide an important perspective of cilia biology in order to better
understand the complex etiology and molecular causes of ciliopathies and potentially open new therapeutic
avenues.

## Key facts

- **NIH application ID:** 10685253
- **Project number:** 5R00HD092613-05
- **Recipient organization:** UNIVERSITY OF ILLINOIS AT CHICAGO
- **Principal Investigator:** Kevin Drew
- **Activity code:** R00 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $238,762
- **Award type:** 5
- **Project period:** 2021-07-01 → 2025-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10685253

## Citation

> US National Institutes of Health, RePORTER application 10685253, Discovery and characterization of novel ciliopathy protein complexes (5R00HD092613-05). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10685253. Licensed CC0.

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