Professor Anthony Moore by sdsdfqw21


									                              Professor Anthony Moore
                              Professor of Ophthalmology. Honorary Consultant Moorfields Eye Hospital/Great Ormond Street Hospital.
                              Qualifications MA FRCS FRCOphth
                              Institute of Ophthalmology                      Tel: 020 7566 2260
                              11-43 Bath Street                               Fax: 020 7608 6830
                              London EC1V 9EL                                 Email:

Summary of current research interests
Molecular genetics of inherited eye disease and the relationship between
genotype and phenotype. Particular interests are in the area of inherited
retinal dystrophies and inherited cataract and genetic epidemiology of age
related macular degeneration.

Key achievements
• In collaboration with Professor Bhattacharya Identification of genes              Cambridge and is supported by an MRC programme grant
  causing dominantly inherited cataract including Aquaprin 0, PITX3,                (PI Professor John Yates).
  Connexin 46, Connexin 50 and Alpha B Crystallin
• Contributed to discovery of genetic mutations underlying inherited retinal        Investigation of the brain phenotype in patients with genetic mutations
  dystrophies and investigations of the disease phenotype                           in genes expressed in both the eye and the brain.
• In collaboration with Professor Bhattacharya and Dr Votruba                       This work is being carried out in collaboration with Professor Veronica van
  identification of the gene (OPA1) causing dominant optic atrophy and              Heyningen at the MRC Human Genetics Unit, Edinburgh and Dr Sanjay
  detailed investigation of the associated phenotype                                Sisodiya at the Institute of Neurology, UCL. In this study patients who
• In collaboration with Professor Robin Ali developing a gene therapy               have an identifiable eye phenotype caused by mutations in genes that are
  programme for the treatment of early onset severe retinal dystrophies.            expressed in both the eye and brain are studied using high definition MRI
                                                                                    scan of the brain and various cognitive and neurological function testing
Research Projects                                                                   to explore the effects of such genes on brain development and function.
Genetics of Inherited Retinal Disease.                                              Initial studies in patients with aniridia due to mutations in the PAX6 gene
We have a programme of research investigating the molecular genetics                showed unexpected developmental brain malformations and functional
of inherited retinal dystrophies. We aim to explore the effects of specific         abnormalities. This novel paradigm has shed new light on the role of
genetic mutations on retinal function in man using detailed psychophysics,          genetic factors in brain development.
retinal imaging and electrophysiology. Current interests are in Leber’s
Congenital Amaurosis and other forms of severe early onset retinal
dystrophies, cone and cone rod dystrophies and inherited macular                    Publications                 Click here for complete publications list
dystrophies.                                                                        Votruba M, Carter AC, Holder GE , Fitzke FW, Bhattacharya SS, Moore AT.
                                                                                    Clinical features in affected individuals from 21 pedigrees with dominant
Investigation of the molecular genetics of human cataract.                          optic atrophy. Arch Ophthalmology 1998;116:351-358
Working with Professor Shomi Bhattacharya, we have ascertained a large
number of families with dominantly inherited congenital cataract and have           Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S. Missense mutations
mapped a number of novel loci and new genes causing cataract. These                 in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts
studies, supported by the Wellcome Trust, are ongoing.                              linked to 12q. Nat Genet. 2000;25:15-7

Genetic Epidemiology of Age Related Macular Degeneration.                           Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore AT,
I collaborate with Professor John Yates, Department of Molecular Genetics           Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya S,
in Cambridge, in studying the genetic variation which confer increase risk of       Wissinger B. OPA1, encoding a dynamin-related GTPase, is mutated in
age related macular degeneration and the relationship between genotype,             autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet
phenotype and environmental risk factors. This is part of an ongoing                2000;26:211-215
collaboration between the Institute of Ophthalmology and University of

Professor Anthony Moore

Sisodiya SM, Free SL, Williamson KA, Mitchell TN, Willis C, Stevens
JM, Kendall, BE, Shorvon SD, Hanson IM, Moore AT, van Heyningen V.
PAX6 haploinsufficiency causes cerebral malformation and olfactory
dysfunction in humans. Nat Genet. 2001;28:214-6.

Michaelides M, Johnson S Poulson A, Bradshaw K, Bellman C, Hunt DM,
Moore AT. An Autosomal Dominant Bull’s Eye Macular Dystrophy that
maps to Chromosome 4p. Invest Ophthalmol Vis Sci 2003;44:1657-62.

• Professor Shomi Bhattacharya – Institute of Ophthalmology
• Professor Fred Fitzke – Institute of Ophthalmology
• Professor David Hunt - Institute of Ophthalmology
• Professor Robin Ali - Institute of Ophthalmology
• Dr Alison Hardcastle - Institute of Ophthalmology
• Professor Alan Bird - Institute of Ophthalmology
• Mr Andrew Webster – Institute of Ophthalmology
• Professor Veronica van Heyningen – MRC Human Genetics
   Unit, Edinburgh
• Dr Sanjay Sisodiya – Institute of Neurology
• Professor John Yates – University of Cambridge
• Dr Jugnoo Rahi – Institute of Child Health
• Dr Graham Holder – Moorfields Eye Hospital
• Tony Robson – Moorfields Eye Hospital


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