Molecular Genetics Laboratory

Unravelling the Genetic Architecture
of Rare Renal Disease

We integrate genomics, clinical data and bioinformatics to understand ARPKD and related ciliopathies — from variant discovery to functional characterisation.

What We Do

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Molecular Genetics

Investigating the genetic basis of inherited kidney and liver diseases, with a focus on PKHD1 variants.

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ARPKD Database

Curated PKHD1 patient annotation database collated from published literature — freely accessible for research.

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Clinical Research

Bridging bench science and bedside care through translational studies in rare renal disease.

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Collaboration

Open to national and international partnerships. We welcome clinicians, geneticists and bioinformaticians.

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Interested in Joining the Lab?

We have openings for PhD students and postdoctoral researchers.

View Opportunities