Biomarker for brain health
Research type
Research Study
Full title
Analysis of primary cilia as a hallmark of brain health and aging
IRAS ID
364517
Contact name
Soo Hyun Kim
Contact email
Sponsor organisation
City St George's, University of London
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
As the world population ages, societal and healthcare costs due to progressive aging-related diseases increase. Accordingly, new approaches that promote healthy aging are urgently needed. The primary cilium, a small antenna-like structure present on nearly all mammalian cells, is critical for sensing and responding to external signals essential for physiological processes. Dysfunctional cilia accelerate aging and contribute to disorders such as cancer, neurodegeneration, and metabolic diseases, highlighting the importance of cilia maintenance for health and aging. Numerous studies link defective cilia to brain aging and neurodegenerative conditions. However, direct assessment of brain cilia is challenging in humans. We will investigate whether buccal mucosa samples, collected via cheek swabs, can serve as non-invasive surrogate material for assessing cilia status in people with neurodegenerative diseases. We will also compare the cilia status in healthy young and old individuals to determine ageing-dependent changes in the absence of neurodegenerative disorders. We will validate the approach by analysing samples from ciliopathy patients with established clinical phenotypes and known disease‑causing genetic mutations. Through an interdisciplinary collaboration, we will develop an artificial intelligence-driven automated analysis platform and apply deep learning to identify specific disease-associated ciliary defects. Validation of this approach will lay the foundation for multicentred collaborations, ultimately establishing a benchmark for age-dependent cilia patterns across the human lifespan for the first time. Our innovative study will advance research on healthy aging by enabling risk prediction, favouring early diagnosis, and informing targeted therapies.
REC name
South West - Central Bristol Research Ethics Committee
REC reference
26/SW/0036
Date of REC Opinion
17 Mar 2026
REC opinion
Favourable Opinion