Dr Mariya Moosajee (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.

Cécile Méjécase (Secretary) is a post-doctoral research fellow in Ocular Genomics and Therapeutics laboratory, directed by Pr Mariya Mooosajee at UCL Institute of Ophthalmology and at Francis Crick Institute, in London. She graduated BSc in 2013 and MSc specialty cellular biology and genetics in 2015 at Université de Versailles-Saint Quentin in France, with honor. Cécile analysed whole exome sequencing data to identify disease-causing defects in patients affected with inherited retinal dystrophy, under the supervision of Pr Isabelle Audo and Dr Christina Zeitz at Vision Institute in Paris, and she obtained her PhD in 2019 from Sorbonne-Université (France). After her PhD, she joined Pr Mariya Moosajee lab as post-doctoral research fellow and she studies autosomal dominant and autosomal recessive RDH12-related diseases. She models these diseases with retinal organoids, obtained from induced pluripotent stem cells derived from affected patient fibroblasts, to identify affected pathways for a better understanding of these RDH12-related retinal diseases.

Neeru Vallabh (Treasurer) is a glaucoma consultant (ophthalmologist) who specialises in glaucoma management (including glaucoma surgery and laser) and cataract surgery at St Paul’s Eye Unit at the Royal Liverpool Hospital and Aintree University Hospital (Liverpool University Foundation Trust). She went to medical school in the University of Newcastle Upon Tyne. At the 2018 meeting for the Association for Research in Vision and Ophthalmology (ARVO) she became an ARVO member in training Science Communication Fellow and received an ARVO Member in Training Outstanding Poster Award. She raises awareness of glaucoma through patient education and has previously hosted glaucoma education events. Neeru completed her ophthalmology training in the Mersey region in 2020 and achieved a PhD in the Department of Eye and Vision Science at the University of Liverpool in 2021 titled “Mitochondrial dysfunction in glaucoma”. This research was funded by the International Glaucoma Association, Fight for Sight and the St. Paul’s Eye Research Foundation. She subsequently completed an 18 month clinical/surgical glaucoma fellowship at Manchester Royal Eye Hospital. Neeru commenced her role as clinical senior lecturer in the Department of Eye and Vision Science in 2021. Her roles include committee member for the UK Eye Genetics group, a section editor for the Eye Journal and is a next generation partner in the European Glaucoma Society. Neeru’s research focuses on mitochondrial dysfunction, metabolomics and anterior segment imaging in glaucoma and she is working closely with other research groups interested in disc assessment in glaucoma, surgical outcomes in glaucoma and genetics in glaucoma.

Kirk Stephenson (Social Media Representative) is a Consultant Ophthalmic Surgeon at Children’s Health Ireland with a focus on retinal disorders, ophthalmic genetics and visual electrophysiology. Kirk graduated from University College Dubin School of Medicine (MBBChBAO), has been awarded a research MD from UCD (diagnostic and therapeutic pathways for inherited retinal diseases) and an MSc in Genomic Medicine from the University of South Wales (genetic basis and therapeutic strategies for ocular von Hippel-Lindau Syndrome). He completed a 2-year medical and surgical retina fellowship at the University of British Columbia, Canada and was supported by a Foundation Fighting Blindness Career Development Grant for an Ophthalmic Genetics fellowship at the Hospital for Sick Children, Toronto, Canada. Kirk has been involved with developing the Irish Inherited Retinal Degeneration (IRD) programme and has a keen interest in patient and public engagement, particularly in the field of retina/IRD. His research interests include genotype-phenotype correlations and biomarker validation for genetic eye diseases.

Chloe Brotherton (Co-Director of Seminars) is a final-year PhD student in the Molecular and cellular mechanisms of Inherited Retinal Dystrophies research group headed by Dr Roly Megaw at the Institute of Genetics and Cancer, University of Edinburgh. She received her BSc degree in Genetics from the University of Glasgow where she then completed her MSci in Medical Genetics and Genomics. Her PhD project is titled “Deciphering the role of RPGR in photoreceptor cilia” and is funded by Retina UK and the Macular Society. This project aims ascertain why mutations in RPGR lead to retinal dystrophies with the aim of informing future gene-agnostic therapies.

Alessia Amato (Co-Director of Seminars) is a clinician specialising in Paediatric Ophthalmology and Inherited Retinal Diseases (IRDs) at Bambino Gesù Children’s Hospital in Rome, Italy, within the Ophthalmic Genetics and Visual Electrophysiology Department directed by Professor Giancarlo Iarossi. Supported by a Foundation Fighting Blindness (FFB) award, she completed a fellowship in Ophthalmic Genetics at the Casey Eye Institute in Portland, Oregon, where she trained with Professors Mark Pennesi, Paul Yang, and Lesley Everett. During this fellowship, she developed a strong interest in outcome measures for IRD clinical trials, with a particular focus on psychophysical endpoints. Her research on scotopic chromatic perimetry has been funded by the FFB through the Clinical Innovation Award, which supports a multicentre study on intersession repeatability and longitudinal follow-up in patients with retinitis pigmentosa using two-colour dark-adapted perimetry on a commercial device. She also undertook a fellowship in Ophthalmic Genetics in Ghent, Belgium with Professor Bart Leroy through a Euretina grant. Alessia was recently selected for the Euretina Mentorship Programme for early-career retina specialists and is currently working with her mentor, Professor Martin Zinkernagel, on novel psychophysical testing approaches for retinal diseases.

Past Presidents

• 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
• Amanda Churchill – University of Bristol
• Denize Atan – Bristol Eye Hospital, University of Bristol

Past UK-EGG Committee Members

• Carmel Toomes – University of Leeds
• Penny Clouston – Oxford Regional Genetics Laboratories, Royal College of Pathologists
• Nicola Ragge – Birmingham Women’s Hospital, Queen Elizabeth Hospital, Birmingham, Oxford Brookes University, Oxford