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UCL Great Ormond Street Institute of Child Health

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Prof Philip Beales

Prof Philip Beales

Address

Institute of Child Health, UCL
30 Guildford Street
London
WC1N 1EH

Appointments

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

Joined UCL

1999-06-01

Primary cilia, once considered vestigial organelles are now revealing themselves as crucial cellular components for cellular signalling and are capable of sensing their enivronment. A number of developmental pathways including Hedgehog and Wnt signalling require an intact cilium. Dysfunction of this signalling process can result in diseases of the retina, kidney, endocrine system, skeleton and nervous system. Many long described syndromes are now being ascribed to cilia pathogenetic lesions are are grouped as the ciliopathies. Many of these syndromes manifest cognitive impairment as well as disordered peripheral nervous system and sensory reception. We have been focussing on several of these diseaes and one in particular, Bardet-Biedl syndrome has been informing us of novel roles for the primary cilium. For example by generating animal models we have determined there are defects in olfactory responses, nociception, satiety (leading to gross obesity) and mental retardation. One of our key goals is to understand the role of primary cilia present on all neurones in learning disability and and cell-cell signalling.
Award year Qualification Institution
1983 BSc
Bachelor of Science
Genetics
To be updated

Keywords

Anti-sense and morpholino approaches|*|Axonal transport|*|Behaviour|*|Behavioural analysis|*|Bioinformatic analysis|*|Bioinformatics|*|Blindness|*|Brain|*|C. elegans|*|Cell culture|*|Cell tracking|*|Cell transplantation|*|Cognition|*|Confocal microscopy|*|Deafness|*|Development|*|Diabetes|*|Eating disorders|*|Electron Microscopy|*|Enzyme assays|*|G-protein coupled receptors|*|Gene expression|*|Gene expression profiling - tissue level|*|Genetic manipulation (including knockout/knockin)|*|Genetic screens|*|Genetics|*|Genetics of ciliopathy syndromes|*|Hippocampus|*|Hypothalamic/pituitary function and dysfunction|*|Hypothalamus|*|Image analysis|*|Intellectual disabilities|*|Learning disability|*|Light microscopic techniques|*|Microarrays|*|Obesity|*|Olfaction|*|Olfactory disorders|*|Proteomics|*|Retina|*|Retinitis pigmentosa|*|Sensory transduction|*|Signalling|*|Time-lapse imaging|*|Transgenic mice|*|Visual disorders|*|Zebrafish

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