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EGG-UK 2009 Meeting -
9th October 2009
Details
Date: Friday 9th October 2009
Venue: Post Graduate Centre, City Hospital, Dudley Road,
Birmingham, B18 7QH
Time: 10:00 - 16:15
Registration: 09:30 - 10:00
Programme (produced by Dr Denise Williams, Con Clin Genet)
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09:30-10:00
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Registration and Coffee
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10:00-10:15
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Introduction |
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10:15-11:15
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Session One: Retinoblastoma - the
Birmingham Experience - John Ainsworth, Consultant Paediatric Ophthalmologist and
Dr Trevor Cole, Consultant Geneticist |
| 11:15-11:45 |
Coffee |
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Session Two
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Cases from the Floor - to include Best Trainee
Prize
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13:00-13:45
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Lunch |
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Session Three
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The Use of Autozygosity Mapping in the
Identification of Rare Autosomal Recessive Conditions |
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13:45-14:00
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Nonsense Mutation in TMEM126A causing Autosomal Recessive
Optic Neuropathy and Auditory Neuropathy - Professor Eamonn Maher, Professor of
Medical Genetics, Birmingham |
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14:00-14:15
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A New Bardet-Biedl Syndrome Locus - Dr Geoff
Woods, Consultant Geneticist, Cambridge |
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14:15-14:30
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Homozygosity Mapping used to Identify Genes for
Microphthalmia and Anophthalmia: FOXE3... - Miss Nicky Ragge, Honorary
Consultant in Paediatric Ophthalmology, Birmingham |
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14:30-14:45
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Mutations in the Putative Mg2+ Transporter CNNM4 Cause
Amelogenesis Imperfecta and Cone-Rod Dystrophy - Professor Chris Ingelhearn,
Professor of Molecular Ophthalmology, University of Leeds |
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14:45-15:05
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Presentation of Trainee
Prize followed by Tea |
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Session Four
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The Eye in Complex Disorders
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15:05-15:25
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Von Hippel Lindau Disease - Professor Eamonn
Maher |
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15:25-15:45
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Optic Tumours in the Neurofibromatosis - Tim
Matthews, Consultant Ophthalmologist, Birmingham |
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15:45-16:05
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The Contribution of the Clinical Scientist to the Diagnosis
and Assessment of Genetic Eye Disease - Dr Peter Good, Consultant Clinical
Scientist, Birmingham |
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16:05
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Summary and Future Plans |
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16:15
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Close of Meeting |
Back to meetings list
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