Human Cilia Disease Biology
The Mitchison Group
The Mitchison group’s aims are to understand the proteins responsible for building and maintaining ciliary functions in human health and disease. Current research is focussed on how different clinical outcomes for ciliopathy patients arise from different genetic mutations and on translating our lab research to the bedside by development of new genetic-based therapies.
- Lab Members
- Gene discovery and functional biology underlying PCD and ciliary chondrodysplasias. We 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. We 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 UCL GOS ICH colleagues (Haiyan Zhou, Chris O'Callaghan, Stephen Hart) we are targeting therapies at selected prevalent mutational types causing PCD
- Teaching and Education
- UCL 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 UCL on the Queen Mary-UCL joint MSc Genomic Medicine
- Mitchison Group Publications
- Funders, Collaborators and Partners
Biotechnology and Biological Sciences Research Council
Great Ormond Street Hospital Charity
The NIHR Great Ormond Street Hospital Biomedical Research Centre
Marie Curie Actions
UCL Translational Research Office
Ministry of Higher Education and Scientific Research
Medical Research Council
Primary Ciliary Dyskinesia Family Support Group