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Dr Amanda Churchill

Dr Amanda Churchill

Dr Amanda Churchill
B.Sc., M.B.Ch.B., Ph.D.(Leeds), F.R.C.Ophth.

Honorary Senior Clinical Lecturer

Area of research

Molecular Ophthalmology and Genetic Profiling

Ophthalmology,
Bristol Eye Hospital, Lower Maudlin Street BS1 2LX
(See a map)

+44 (0) 117 34 24596
+44 (0) 117 3424681

Summary

Genetic eye disease has been my research interest for over a decade, focusing on identifying the molecular cause of several developmental eye conditions, such as aniridia, Peters' anomaly, Rieger's anomaly/syndrome, congenital glaucoma and dominant optic atrophy. From our findings in the laboratory we have been able to translate this directly to the clinic and counsel many individuals and families more accurately about the inheritance of their condition. We have also more recently used this experience to develop a NHS UK testing centre at Southmead Hospital for Peters' and Rieger's anomalies/syndrome. We collaborate with other research centres within the UK and are currently assisting a molecular ophthalmology group at the University of Leeds investigate genes involved in retinal dystrophies. This is the very first step on the path to developing therapies in genetic eye disease.

Genetic profiling can identify 'genetic risk factors' in individuals who may be predisposed to certain conditions. This can be useful to direct prophylactic screening or treatment when there is no other way of predicting development of disease. We have used this technique to:

- show that a specific DNA sequence change in the 'beta-defensin' gene is present more frequently in people who develop sight threatening infections following cataract surgery than in those who do not

- show that individuals who develop severe advanced diabetic retinopathy have specific DNA sequence changes in the vascular endothelial growth factor (VEGF) gene that are less commonly seen in those who have milder disease

- show that individuals with the 'wet' or 'exudative' form of age-related macular degeneration also have DNA sequence changes in the VEGF gene that are less commonly seen in those who do not develop the condition

The latter findings have enhanced our understanding of the role of the VEGF gene is the process of ocular angiogenesis - the abnormal growth of blood vessels in the eye. Angiogenic eye disease is not restricted to adults and is central to the pathogenesis of retinopathy of prematurity and infantile capillary haemangiomas (CH). We are currently investigating the role of different VEGF isoforms in CH and alternative forms of treatment for this condition.

Genetic profiling can also be used to predict disease progression and response to treatment (pharmacogenetics). We are currently investigating why the commonest form of treatment for exudative age-related macular degeneration - anti-VEGF therapy - does not work equally well in all individuals. Given the increasing number of new therapies emerging and the enormous costs involved, we hope this may ultimately lead to personalised healthcare whereby the appropriate treatments are chosen for each individual based on their genetic profile.

Keywords

  • Genetics
  • VEGF
  • Eye

Skills

  • Diabetic retinopathy
  • age-related macular degeneration
  • Capillary haemangioma

Processes and functions

  • Angiogeneisis

Memberships

Organisations

Bristol Medical School (THS)

Academic staff

Research groupings

Recent publications

View complete publications list in the University of Bristol publications system

Networks & contacts

  • Professor Dave Bates

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