Email: portico-services@ucl.ac.uk
Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
- Professor of Molecular Medicine
- Genetics & Genomic Medicine Dept
- UCL GOS Institute of Child Health
- Faculty of Pop Health Sciences
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.
2018 | Head of Section: Cilia Disorders | Genetics and Genomic Medicine Programme | UCL Great Ormond Street Institute of Child Health, United Kingdom |
2014 – 2019 | 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 | Postgraduate Tutor | Genetics and Genomic Medicine Programme | UCL Great Ormond Street Institute of Child Health, United Kingdom |
1991 | Doctor of Philosophy | University of Birmingham | |
1986 | Bachelor of Science (Honours) | University of Sussex |