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Prof Hannah Mitchison
G14, Ground Floor
UCL GOS Institute of Child Health
30 Guilford Street
Prof Hannah Mitchison profile picture
  • Professor of Molecular Medicine
  • Genetics & Genomic Medicine Dept
  • UCL GOS Institute of Child Health
  • Faculty of Pop Health Sciences
Research Summary

We use human genetics and functional studies in cells and ciliate organisms to understand the molecular genetic basis of ciliopathies, with particular focus on the motile ciliopathies (primary ciliary dyskinesia) and skeletal ciliopathies (Jeune syndrome, short rib thoracic dysplasias). Human cilia and sperm play diverse roles essential to many aspects of normal development and ciliopathies are an expanding group of >20 genetic disorders. Motile cilia dysfunction is associated with chronic respiratory disease and laterality and fertility defects. Dysfunction of primary (sensory) cilia affects critical signalling pathways, causing a spectrum of developmental conditions e.g. chondrodysplasia, retinal degeneration and cystic kidney disease. Mutations in ciliary proteins thus underlie  complex, multisystem ciliopathy syndromes; these are often rare disease but they collectively represent a significant health burden affecting around 1:1,000 people.

My group's work has helped to determine novel causes of skeletal ciliopathies where restricted bone growth and multiorgan failure is often lethal. We have elucidated a cellular network of over 50 proteins essential for ciliated airway epithelium differentiation and human sperm and cilia motility. This latter work has characterized the disruption in disease of multiciliogenesis master regulators, essential axoneme structural proteins and a cytosolic chaperone-mediated network of dynein assembly factors that are required to power and regulate axonemal motor activity. It has revealed links between dynein assembly and intraflagellar transport as a cause of human disease. We are currently engaged in an EU-funded clinical programme to document all human variants causing motile ciliopathies and to thereby reveal the genotype-phenotype correlations that can determine how a patient’s underlying genetics affect their clinical disease expression. This work will help to improve disease understanding and guide future clinical management and interventions.

Ciliopathies are incurable disorders affecting all ages of people and from earliest life. There is urgent need to understand the inter-related structure and functions of sperm and different cilia in the body, in order to translate our biological advances into an improved understanding of disease that can be of benefit to the affected patients. By understanding the molecular causes of ciliopathies, our goal is to develop new genetic medicines that can accurately treat ciliopathy patients according to their underlying gene defect. We are currently developing RNA based drugs to efficiently target different classes of mutations causing motile ciliopathy disease.

Teaching Summary
I am module lead for UCL MSc module CHLD0066: Clinical Genomics, Genetics and Rare Diseases.

I co-lead for UCL on the HEE-supported MSc Genomic Medicine, run in collaboration with Queen Mary University of London. For this course I co-lead the Genomics of Common and Rare Diseases module.

I supervise genetics research and literature projects for MSc students and supervise a number of PhD students.
2022 Head of Department Genetics & Genomic Medicine UCL Great Ormond Street Institute of Child Health, United Kingdom
2022 Chair of Ciliopathy Alliance    , United Kingdom
2018 – 2022 Head of Section: Cilia Disorders Genetics and Genomic Medicine Programme UCL Great Ormond Street Institute of Child Health, United Kingdom
2018 – 2020 Lead, EDI Public Engagement Focus Group   UCL Great Ormond Street Institute of Child Health, United Kingdom
2018 UK Cilia Network Leadership team   UK Cilia Network, United Kingdom
2018 Trustee of Ciliopathy Alliance   Ciliopathy Alliance, United Kingdom
2014 – 2019 GGM Education Lead Genetics & Genomic Medicine Programme UCL Great Ormond Street Institute of Child Health, United Kingdom
2013 – 2019 Associate Professor UCL GOS Institute of Child Health UCL, United Kingdom
2011 – 2020 UCL GOS ICH Postgraduate Tutor Genetics and Genomic Medicine Programme UCL Great Ormond Street Institute of Child Health, United Kingdom
Academic Background
1991   Doctor of Philosophy University of Birmingham
1986   Bachelor of Science (Honours) University of Sussex
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