Human Cilia Disease Biology
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- Lab Members
- Projects
- Gene discovery and functional biology underlying PCD and ciliary chondrodysplasias.ÌýWe are using next-generation sequencing and associated omic techniques to identify novel causes of ciliopathy diseases, in collaboration with our clinical partners in the UK and beyond. The Mitchison group contribute to the Genomic England and PanelApp projects and other initiatives aimed at developing genetic testing for motile ciliopathies, such as the BEAT-PCD Clinical Research Collaboration. In parallel we are investigating the known disease causes to look at the protein networks that regulate the structure and functions of cilia. For PCD we are focused on the dynein arm assembly process using biochemical and proteomic approaches.
- Understanding how ciliopathy genotype influences the underlying clinical symptoms and disease lifecourse. From these arising genetic advances we are working to develop a better understanding of how genetics influences the clinical outcomes for ciliopathy patients, and this is already leading to advances in prognostic predictions and improved counselling for affected individuals and their families.
- Novel therapies for PCD and Jeune Asphyxiating Thoracic Dystrophy.ÌýWe are currently developing in vivo models of PCD and Jeune Asphyxiating Thoracic Dystrophy and have a number of projects funded for development of novel genetically targeted ciliotherapies. Together with the PCD National Service and Ïã¸ÛÁùºÏ²Ê GOS ICH colleagues (Haiyan Zhou, Chris O'Callaghan, Stephen Hart) we are targeting therapies at selected prevalent mutational types causing PCD
- Teaching and Education
- Ïã¸ÛÁùºÏ²Ê GOS-ICH Postgraduate Research Tutor MSc Module Lead for CHLD0066:
- Clinical Genomics Genetic and Rare Diseases (MSc Paediatics & Child Health, MSc Personalised Medicine and Novel Therapies; MSc Cell & Gene Therapy)
- Co-Director for Ïã¸ÛÁùºÏ²Ê on the Queen Mary-Ïã¸ÛÁùºÏ²Ê joint MSc Genomic Medicine
- Mitchison Group Publications
- Funders, Collaborators and Partners
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