UK-EGG Steering Group
Denize Atan (Joint Chair) is an Honorary Consultant Ophthalmologist specialising in Paediatric and Adult Neuro-Ophthalmology at Bristol Eye Hospital and a Senior Lecturer at the University of Bristol. After completing her medical training at the Universities of Cambridge and Oxford, Denize went on to train in General Medicine and Ophthalmology before undertaking a Senior Clinical Fellowship in Paediatric and Adult Neuro-Ophthalmology in Birmingham, one of the largest Neuro-ophthalmology centres in the UK, with Mike Burdon, Tim Matthews, Andrew Jacks, Susie Mollan and Manoj Parulekar. Alongside her clinical training, Denize was awarded her PhD in Ocular Genetics from the University of Bristol under the tutelage of Amanda Churchill and Professor Dick with funding from the Wellcome Trust, followed by a postdoctoral Wellcome Trust Fellowship in Neurogenetics at Sick Kids Hospital in Toronto with Professor Rod McInnes. Her current research aims to investigate how genes regulate neurodevelopment, neurodegeneration and neuro-inflammation, as well as using novel methods in genetic epidemiology to determine the impact of environmental risk factors on common ocular diseases.
Dr Mariya Moosajee (Joint Chair) is a Consultant Ophthalmologist in Genetic Eye Disease at Moorfields Eye Hospital and Great Ormond Street Hospital for Children, and a Wellcome Trust Beit Prize Clinical Research Career Development Fellow and Senior Lecturer at UCL Institute of Ophthalmology. She graduated with First Class Honours in Biochemistry and Molecular Genetics BSc in 2000, Medicine (MBBS) in 2003, and was awarded her PhD in Molecular Ophthalmology in 2009 all from Imperial College London. Her current clinical focus is providing a genomic medicine service for children and adults affected with all forms of genetic eye disease including congenital eye defects and inherited retinal dystrophies. She undertakes detailed clinical studies to understand the natural history of retinal disease to identify accurate outcome measures for clinical trials. Dr Moosajee also leads her own research group at the UCL Institute of Ophthalmology and her specialist interest is understanding the molecular basis of ocular maldevelopment and inherited retinal dystrophies, using zebrafish disease models and human induced pluripotent stem cell derived retinal cells. Through dissecting the molecular and cellular pathways of disease, Dr Moosajee and her team have identified potential therapeutic targets and developed treatment strategies, including nonsense suppression therapy for inherited retinal diseases, which is translational and applicable to a wide range of genetic eye disorders.
Gabrielle Wheway (Secretary) is a Lecturer in Functional Genomics at the University of Southampton, where she is Dissertation Lead and member of management team for the MSc Genomic Medicine. She completed her PhD in molecular genetics and functional characterisation of ciliopathies under the supervision of Prof Colin Johnson, Prof Chris Inglehearn and Dr Carmel Toomes at the Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine. Her doctoral studies initially focussed on the retinal ciliopathy LCA associated with mutations in LCA5, but moved into the more severe ciliopathies MKS and JBTS. Her postdoctoral work as part of the EU FP7 ‘Syscilia’ programme involved a whole genome siRNA knockdown screen to identify novel cilia and ciliopathy genes. This led to the discovery that the pre-mRNA splicing factors mutated in adRP are located at the base of the primary cilium and are required for ciliogenesis. This forms the basis of her current work, funded by the Wellcome Trust and National Eye Research Council. She has a strong interest in functional characterisation of molecular pathways of disease in inherited retinal dystrophies, with a view to identifying targets for development of novel therapeutics.
Amanda Churchill (Past Chair/Adviser) is a Consultant Paediatric Ophthalmologist with a special interest in Genetics and honorary Clinical Lecturer at the University of Bristol. During her training in Yorkshire, she undertook a PhD in the Department of Molecular Medicine at the University of Leeds studying the genetics of developmental eye disease including anterior segment dysgeneses and dominant optic atrophy. She spent a six month molecular genetics Fellowship with Professor Ed Stone in Iowa before moving to the University of Bristol in 2001. Her continued research on inherited eye disease led to the development of an NHS-funded genetic test for anterior segment dysgenesis. Moving away from simple Mendelian to complex genetics diseases, Amanda has devoted the last ten years to investigating the VEGF gene in angiogenic eye diseases. She has published a DNA profile associated with both age-related macular degeneration and proliferative diabetic retinopathy. Funding has included the The Wellcome Trust, Diabetes UK and the British Heart Foundation. Her current research is focussed on personalised medicine and using genetic profiling as a predictor of how an individual may respond to treatment. In addition to her research interests, she leads the Paediatric Ophthalmology unit at Bristol Eye Hospital and runs a monthly Genetic Eye Clinic. Amanda has previously been Treasurer of UKEGG for the last 4 years.
Carmel Toomes (Treasurer) is an Associate Professor in the School of Medicine at the University of Leeds in the field of molecular and cellular ophthalmology. She completed her PhD at the University of Manchester under the supervision of Professor Mike Dixon, studying the Molecular Genetics of Blepharophimosis, Ptosis and Epicathus Inversus Syndrome (BPES). Her first post-doctorial position was also in Manchester under the supervision of Professor Nalin Thakker, studying oral cancer and Papillon–Lefèvre syndrome. In 2000, she moved to Leeds to take up a post-doctoral position with Professor Chris Inglehearn investigating Optic Atrophy. In 2002 she became a principle investigator after obtaining funding from the Wellcome Trust, followed by a Royal Society University Research Fellowship, to investigate Familial Exudative Vitreoretinopathy (FEVR). At the end of her fellowship in 2013, Carmel took up her current post. She continues to work on FEVR along with other inherited retinal diseases including Foveal Hypoplasia, Leber Congenital Amaurosis, Optic Atrophy, Cone Rod Dystrophy and Retinitis Pigmentosa. She is a member of the European Retinal Disease Consortium (www.erdc.info), the UK Inherited Retinal Disease Consortium (UK IRDC), the Hearing and Sight GeCIP and the Medical Advisory Board for RP Fighting Blindness.
Nicola Ragge (Nicky) is a Consultant Geneticist, Birmingham Women’s Hospital, Birmingham; honorary Consultant, Dept of Ophthalmology, Queen Elizabeth Hospital, Birmingham, and Professor in Medical Genetics, Oxford Brookes University, Oxford. Nicola Ragge trained in Paediatrics before entering Ophthalmology. After her general Ophthalmology training, she undertook Fellowships in Paediatric Ophthalmology, Neuro-ophthalmology, Adnexal Surgery, Ophthalmic Genetics at centres including: UC, San Francisco, Children’s Hospital Los Angeles, Great Ormond St Hospital and Moorfields Eye Hospital, London. She started to specialise in understanding the genetics of congenital eye anomalies, mainly anophthalmia and microphthalmia in 1999 whilst working in the Adnexal Dept at Moorfields Eye Hospital with Professor Richard Collin and set up a joint multidisciplinary clinic. In 2003, she was awarded a Senior Surgical Scientist Fellowship to establish a research programme in developmental eye genetics in Oxford whilst working as Consultant Paediatric Ophthalmologist in Moorfields and Birmingham Children’s Hospital. She undertook specialist training in Clinical Genetics to become dual accredited in Genetics and Ophthalmology, and now works as a consultant geneticist, with a special interest in developmental eye genetics and runs a national laboratory research programme on Eye Genetics in Oxford. She has identified new genes and syndromes involving eye anomalies and has established new rapid diagnostic testing for these genes. She has wide-ranging research interests, has published over 80 papers, and a book ‘Immediate Eye Care’. She has worked as Associate Editor of the Journal of Medical Genetics. She is medical advisor to the Microphthalmia, Anophthalmia, Coloboma support group.
- Georgina Hall – Manchester Centre for Genomic Medicine
- Susan Downes – Oxford Eye Hospital, Oxford University Hospitals, University of Oxford
- Professor Graeme Black – Central Manchester University Hospitals
16 years of support for ophthalmic clinicians and clinical geneticists