Research

Research Overview

We decode how cilia dysfunction drives human disease — connecting patient gene mutations to cellular dysfunction and ultimately to clinical phenotypes, using genetics, systems biology, and functional models.

Research Projects

Each project is a focused question. Click to explore.

Genetics

Cilia & Ciliopathies

How do mutations in ciliary genes cause multi-organ disease?

ApproachPatient WES, C. elegans models, CRISPR/Cas9, high-res imaging, biochemical assays

DiseasesJoubert syndrome · Bardet-Biedl syndrome · Cranioectodermal dysplasia · Meckel syndrome

ImpactIdentifying novel disease genes, validating patient variants, accelerating rare disease diagnosis

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Functional Genomics

Disease Modeling

Which variants of uncertain significance actually cause disease?

ApproachWhole exome sequencing, CRISPR/Cas9 functional screening, C. elegans orthologous variant matching

Key toolConVarT — maps human variants to model organism equivalents

ImpactClinical-grade variant interpretation, reducing diagnostic odysseys for rare disease families

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Cell Biology

Cilia–Cilia Joining

How do adjacent cilia communicate and elongate together?

ApproachFIB-SEM ultrastructure, super-resolution microscopy, ARL13B & BBSome functional studies

DiscoveryARL13B regulates juxtaposed cilia-cilia elongation in a BBSome-dependent manner (iScience 2025)

ImpactUnderstanding inter-ciliary signalling and its role in ciliopathy pathogenesis

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Bioinformatics & Open Science

Bioinformatics Tools

How do we make ciliary and rare disease data accessible to all researchers?

ToolsCiliaHub · CiliaAtlas · CilioGenics · CiliaMiner · ConVarT · MSABrowser

ApproachMulti-evidence integration, machine learning, open-access databases, scalable web platforms

Impact2,000+ ciliary genes catalogued · 359 cell types by ciliation status · used by labs worldwide

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