UKEGG Steering Group
Susan Downes (President) is a Consultant Ophthalmic Surgeon and Medical Retinal Specialist at the Oxford Eye Hospital, Oxford University Hospitals, and an Associate Professor at the University of Oxford. During her training she completed a clinical fellowship in medical retina at Moorfields, and obtained her medical doctorate in inherited retinal dystrophies during this time at the Institute of Ophthalmology, London. She took up her post in Oxford in 2000 and since then has developed her clinical and research interests in inherited retinal degeneration, and age related macular degeneration. She runs the clinical eye research group in Oxford (ERGO) with a team of 13 staff, and is the Thames Valley Ophthalmology representative for both the clinical research network and for the specialised commissioning group (Ophthalmology-CRG). Susan has together with Andrea Nemeth from Clinical Genetics, Penny Clouston and Anneke Seller, Oxford Clinical Genetics Service introduced genetic testing for inherited retinal and optic nerve dystrophies using a targeted panel approach. Susan also works closely with the retinal therapeutic team led by Robert MacLaren investigating potential therapies including augmented electronic vision, and gene therapy in the Oxford Eye Hospital.
Amanda Churchill (Treasurer) 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.
Georgina Hall (Secretary) is a Consultant Genetic Counsellor in the Manchester Centre for Genomic Medicine in the UK. Having gained her degree in Genetics at Cambridge University, she went on to graduate from the Master’s degree in Genetic Counselling in Manchester in 1992. Georgina has worked across many different areas of clinical Genetics, but specialises in ophthalmic genetics. She has been working in the multidisciplinary genetic eye clinics in Manchester for twentyyears involving clinical geneticists, ophthalmologists, genetic counsellors and eye clinic liaison officers. Georgina’s research interests include developing services for patients and families with inherited eye disease. Her programme of research, funded by a patient Charity, Fight for Sight, has explored the needs of patient with retinal dystrophy, measuring experiences and value of genetic testing for retinal dystrophy and development methods to evaluate services. She is also interested in communication with families, developing communication aides for patients with visual impairment, leaflets and information for patients to support family communication and decision making.
Graeme Black is a Professor of Genetics and Ophthalmology at Central Manchester University Hospitals NHS Foundation Trust. During training, he undertook a DPhil in the Department of Biochemistry at the University of Oxford, studying the genetics of ophthalmic disease – a period that enabled him to develop his combined subspecialty interests. Having moved to Manchester in 1995, Graeme was a Wellcome Trust Clinician Scientist, and then Senior Research, Fellow. He was the director of the NIHR Manchester Biomedical Research Centre (2009—2012), director of the Manchester Institute of Human Development (2012- 2014) and is currently strategic director of the Manchester Centre for Genomic Medicine (MCGM). With the advent of new technologies, insight into the underlying molecular mechanisms has become accessible for inherited eye disease, providing earlier and more precise diagnosis, improving management and raising the possibility of new therapeutic approaches. The translation of such discoveries into improved healthcare provision is a major motivation; since 2004, MCGM has delivered molecular testing for an expanding portfolio of conditions including retinoblastoma, XLRP and most recently, inherited retinal dystrophies and congential cataract utilizing NGS. Graeme has worked closely with patients and patient groups to undertake health economic and qualitative healthcare research aimed at the delivery of innovative genomic strategies leading to the improvement of patient management.
Marcela Votruba is Professor of Ophthalmology and an Honorary Consultant in Ophthalmology at Cardiff University and the University Hospital of Wales and Head of the School of Optometry & Vision Sciences at Cardiff University. She was awarded an Open Scholarship from The Queen’s College, Oxford to read Physiological Sciences. She trained in Ophthalmology at The Royal London Hospital, St Bartholomew’s Hospital, Bristol Eye Hospital and Moorfield’s Eye Hospital. She obtained a PhD at UCL in ophthalmic genetics, using linkage and positional cloning to identify the OPA1 gene, implicated in dominant optic atrophy. She has held Wellcome Trust and MRC Clinician Scientist Fellowships and is a former Consultant at Moorfield’s Eye Hospital and a Visiting Research Scholar at the National Eye Institute, National Institutes of Health, USA. Since 2003 she has been in Cardiff where she runs a retinal clinic and a monthly genetic eye clinic. Her research focuses on ophthalmic genetics and mitochondrial diseases, in particularly in the role of mitochondrial dynamics in the pathophysiology of inherited optic neuropathy. Her lab in The Cardiff Vision Institute focuses on in vitro and in vivo approaches to modelling mitochondrial dysfunction leading to retinal ganglion cell loss and on genes and proteins involved in the regulation of mitochondrial morphology.
Andrew Webster is a consultant ophthalmologist at Moorfields Eye Hospital and Chair of Molecular Ophthalmology at University College London. He trained in Cambridge, Iowa City and Moorfields. He oversees a large clinical practice at Moorfields managing patients and families with inherited retinal disease, and supervises a group of investigators at the Institute of Ophthalmology.
Simon Ramsden qualified in Biology from Manchester University and undertook postgraduate training in Birmingham University. He has worked in the Genetics Department in Saint Mary’s Hospital for over 20 years. Within the Genomic Diagnostics Laboratory he is joint head of the Constitutional Genetics Section with responsibility for disorders of learning difficulty, cardiac, respiratory, metabolic and ophthalmic molecular genetic Services.
Daniela Pilz is a Consultant in Clinical Genetics at the West of Scotland Genetics Service, Glasgow. She graduated from Medical School in Hannover, Germany, and trained in paediatrics and clinical genetics in the UK. The topic of her MD thesis was “Lissencephaly”. She spent two-years as a research associate in a molecular laboratory at the University of Chicago, Department of Human Genetics, working on cortical malformations, specifically the molecular causes of the classical lissencephaly spectrum. She is still involved in research into causes of cortical brain malformations. Her clinical expertise lies in dysmorphology, paediatric neurogenetics and eye genetics. For over 10 years she ran a joint eye-genetics clinic with Mr Watts Consultant Ophthalmologist, in Cardiff. She is now providing a joint eye-genetics clinic with Dr Gilmour, Consultant Ophthalmologist, in Glasgow. She has been a member of the Eye-Genetics Group from its inception. She has given invited lecturers on “eye and genetics” at courses and conferences. Her focus is on equitable delivery of comprehensive clinical and molecular diagnostic support for families with genetic eye disease.
Penny Clouston is a Consultant Clinical Scientist (Molecular Genetics) in the Oxford Regional Genetics Laboratory and a Fellow of the Royal College of Pathologists. She starter her career in diagnostics as a graduate Development Scientist at Amersham International before undertaking research on the androgenic regulation of gene expression in the Department of Biochemistry and Molecular Biology at the University of Leeds. After completing her PhD she joined the SE Thames Regional Genetics service as a Clinical Scientist. Since moving to the Oxford laboratory in 1994, Penny has developed experience in many areas of genetic diagnoses. This includes the development and delivery of diagnostic services for neurological, neuromuscular and developmental delay disorders and cardiac conditions. She is currently Lead for the Hereditary Ataxias, Joubert syndrome and inherited Retinal Dystrophy Next Generation Sequencing (NGS) services. Penny is interested in the genetic diagnosis of clinically and genetically heterogeneous disorders. Her main focus is translational genomics; namely the validation and integration of new technologies and bioinformatics into clinical practice. Her aim is to deliver efficient, clinically effective testing services to expedite diagnosis, facilitate patient management and provide equitable access to diagnostic testing for all patients with genetic disease.
Barbara Norton is an experienced Social Worker/Counsellor, having worked in Local Authority, Hospital and Voluntary Sector contexts. Barbara has helped to pioneer the provision of professional counselling, in a multi-disciplinary team, at the point of diagnosis of retinal dystrophies and has spoken widely on this subject at medical and social work conferences, plus patient support groups. Barbara holds a BSc. (Hons.) in Human Biology and Anatomy, plus Diplomas in Sociological Studies, and Applied Social Studies all from Sheffield University. She also holds a Certificate of Qualification in Social Work (CQSW). Barbara has worded on a voluntary basis as the Counsellor in the Specialist Inherited Retinal Dystrophy clinics at Moorfields Eye Hospital in London since 1992. Over this period she has worked in multi-disciplinary teams led by Professor Alan Bird, Professor Tony Moore and currently Professor Andrew Webster. Barbara is a founder member of the Eye Genetics Group (EGG UK) and a member of the patient advisory group for the Regard study. Barbara has held a range of voluntary roles for RP Fighting Blindness (formerly the British Retinitis Pigmentosa Society) and is a Guide Dog Owner and GDBA speaker.
Previous Steering committee members
We should like to thank the following members for their hard work and support on the Steering Committee:
- Prof Tony Moore (Moorfields Eye Hospital, UCL)
- Ruth Newbury-Ecob (Royal United Hospital, Bath)
- David Robinson (Southampton Regional Genetics Service)