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UCL Great Ormond Street Institute of Child Health

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Dr Hannah Mitchison

Dr Hannah Mitchison

Address

32, 3rd Floor PUW
Institute of Child Health
30 Guilford Street
London
WC1N 1EH

Appointments

  • Reader in Molecular and Medical Genetics
    ICH Genetics & Genomic Medicine Prog
    UCL GOS Institute of Child Health

Joined UCL

1991-02-01

We use human genetics and functional studies in cells and in vivo models 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 polydactylies). Other genetic diseases under study in the lab include lysosome storage disorders (Batten disease). By understanding the molecular causes of childhood disease our goal is to work towards novel, genetically targeted, therapies.

Human cilia play diverse roles in many processes essential to normal development. Motile cilia dysfunction is associated with chronic respiratory disease and laterality and fertility defects. Dysfunction of primary (sensory) cilia, which play a role in a number of critical signalling pathways including hedgehog and Wnt, is associated with severe developmental conditions for example chondrodyslplasia, retinal degeneration and cystic kidney disease. Mutations in ciliary proteins thus underlie a wide range of ciliopathy syndromes and these can individually be rare, but collectively represent a significant health burden.

Award year Qualification Institution
1991 PhD
Doctor of Philosophy
Cancer Studies
University of Birmingham
1986 BSc Hons
Bachelor of Science (Honours)
Biology
University of Sussex

Keywords

Ageing|*|Anti-sense and morpholino approaches|*|Autophagy|*|Batten's disease|*|Behavioural analysis|*|Bioinformatic analysis|*|Brain|*|Cell culture|*|Electron Microscopy|*|Genetic manipulation (including knockout/knockin)|*|Genetics|*|Genomic analyses|*|Hydrocephalus|*|Light microscopic techniques|*|Linkage, mapping and positional cloning|*|Microglia|*|Molecular genetics of Batten disease and epilepsies|*|Mouse|*|Neurodegeneration|*|Neurodegenerative diseases|*|Retina|*|Retinitis pigmentosa|*|Zebrafish

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