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An integrated translational platform to improve the management and outcome of rare heritable connective tissue disease

This interdisciplinary project aims to improve the outcome of heritable connective tissue disease. Using deep phenotyping techniques in combination with advanced genetic analysis, both in the clinic and in animal models, we expect to uncover molecular mechanisms which will inform better disease management strategies. In parallel, we aim to identify novel therapeutic targets using unbiased phenotypic screening in zebrafish models.

Date:1 Jan 2021  →  Today
Keywords:rare disease, genetics, mouse models, Heritable connective tissue disease, patients, zebrafish models, next generation sequencing, deep phenotyping, omics, extracellular matrix, gene editing
Disciplines:Compound screening, Musculo-skeletal systems , Biofluid mechanics, Medical genomics, Vertebrate biology