Project: An integrated translational platform to improve the management and outcome of rare heritable connective tissue disease
2021-01-01 – 2025-12-31
- Abstract
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.
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- Journal Article
- A1
- open access
Systematic disruption of zebrafish fibrillin genes identifies a translational zebrafish model for Marfan Syndrome
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- Journal Article
- A1
- open access
A rare 5’UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta : a roadmap for RNA therapeutic rescue
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- Journal Article
- A1
- open access
The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome
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- Journal Article
- A1
- open access
Foveal hypoplasia in Myhre syndrome : a novel association
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Arterial tortuosity syndrome : a longitudinal assessment of cardiovascular features and interventions from the collaborative for longitudinal aortic research in the young (CLARITY)
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Loss of the ubiquitin-associated domain of sqstm1/p62 in zebrafish causes a phenotype resembling Paget’s disease of bone
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- Journal Article
- A1
- open access
Evaluating variants of uncertain significance in adult zebrafish via prime editing : a proof of concept with a COL1A2 variant
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- Journal Article
- A1
- open access
ADAMTS2 : more than a procollagen N-proteinase
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Autosomal dominant transmission reframes reproductive counseling in Myhre syndrome : a novel family and literature review
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- Journal Article
- A1
- open access
RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease