Professor Mariya Moosajee
Professor Mariya Moosajee is a Consultant Ophthalmologist in Genetic Eye Disease at Moorfields Eye Hospital and Great Ormond Street Hospital for Children. She is a Professor of Molecular Ophthalmology at UCL Institute of Ophthalmology, and Group Leader of Ocular Genomics and Therapeutics at the Francis Crick Institute in London.
Professor Moosajee’s current clinical focus is providing a genomic ophthalmology service for children and adults affected with pan-ocular genetic eye disease. She also leads an active research group and is focused on both clinical research, which involves detailed characterisation of patient’s clinical features and natural history studies to understand disease progression and define outcome metrics for clinical trials.
In the laboratory, she is advancing our understanding of the molecular basis of ocular maldevelopment and inherited retinal dystrophies, using zebrafish disease models and human induced pluripotent stem cell derived retinal cells. This permits the identification of potential therapeutic targets for development of treatment strategies, including small molecule drugs and non-viral gene therapy.
Professor Moosajee is the joint President of the UK Eye Genetic Group, sits on the Education and Academic committees at the Royal College of Ophthalmologists, and is the President of Women in Vision UK. She is the Medical Advisor for Microphthalmia, Anophthalmia and Coloboma Support and the Aniridia Network.
Mr Peter Thomas
Peter is the Director of Digital Innovation and a Consultant Ophthalmologist at Moorfields Eye Hospital.
Clinically, he specialises in paediatric ophthalmology and strabismus surgery. He has been involved in digital health for many years, and his main interest is in driving the digital transformation of eyecare in the UK. His work supports the creation of new models of care, for example the recent deployment of video consultations and home monitoring at Moorfields, that are more convenient and more available for patients. He sits on a number of national committees and boards to drive this process agenda across all of ophthalmology and in the NHS more generally.
His current research interests include the assessment of environmental impact of healthcare, and the creation and implementation of clinically helpful artificial intelligence solutions.
Dr Alex Yeong
Alex is a fifth-year ophthalmology specialist trainee based at the Royal Victoria Hospital in Belfast, Northern Ireland. He graduated from University of Dundee in 2013 and remained there for two years to complete his foundation training. He moved to Northern Ireland in 2015 to commence his ophthalmology training, but spent the past year at Moorfields Eye Hospital in London creating Gene.Vision.
Alex has an interest in retinal diseases and has been involved in various research projects, including a Cochrane systematic review on a form of investigative treatment for age-related macular degeneration, he has contributed to the Textbook of Genomic Ophthalmology by writing the chapter on inherited retinal dystrophies under the supervision of Professors Mariya Moosajee and Andrew Webster. He also organised and run a research clinic in Belfast recruiting patients with nystagmus into the 100,000 Genomes Project, which subsequently piqued his interest in genetics and applied to help create the Gene.Vision website.
Alex believes that patient care can be enhanced by bridging the gap between patients and healthcare professionals through sharing clinical information in a comprehensive and easily-understood manner. The Gene.Vision website is created around this core value.
Acknowledgements
We would like to take this opportunity to thank the following contributors who helped to write entries, proof-read and convert to lay summaries:
1) Funders
Special thanks goes to the NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, who supports translational research that is designed to take advances in basic medical research from the laboratory to the clinic, enabling patients to benefit more quickly from new scientific breakthroughs. They have contributed equally to the funding of this initiative and have committed to support the maintenance of Gene Vision in the future.
Retina UK is the joint funding partner of Gene Vision, and we are very grateful to them, not only their financial support but also for their input into accessibility and content. They are a charitable incorporated organisation working for people with inherited sight loss. They fund medical research to understand these complex conditions and speed up the search for treatments and provide information and support services to help more people lead fulfilling lives.
2) Digital accessibility consultants
We were pleased to work with Miss Molly Watt, usability and accessibility consultant, specialising in assistive technology and design for those with sensory impairment, and Mr James Buller a public/charity sector, digital accessibility, user experience, & communications specialist. Both independently contributed to the design of the website and guided its accessibility for our target audience.
3) Charity partners
Thanks to the charities Aniridia Network, Nystagmus Network, International WAGR Syndrome Association, Retina UK, Usher Kids UK, Molly Watt Trust, Norrie Disease Foundation, Microphthalmia, Anophthalmia and Coloboma Support and Esme Umbrella, who have all reviewed the content related to their conditions and have endorsed the website.
4) Clinical team
Our thanks go to Dr Ngozi Oluonye, Consultant Paediatrician specialising in neurodevelopment and disability, based at Moorfields Eye Hospital and Great Ormond Street Hospital for Children. She has provided oversight on ensuring that our recommended management of children with genetic eye disease encompasses the appropriate paediatric assessment and follow-up.
Dr Lois Loo Ee Puan, a local GP who has contributed significantly to the content and website design. She provided input from the early stages of development, making sure the content is relevant to patients and also user-friendly, not only for patients, but also for doctors from other specialities. She has also contributed much time in proof-reading our content.
Professor Andrew Webster, Professor of Molecular Ophthalmology and Consultant Ophthalmologist at Moorfields Eye Hospital, who provided guidance on the inherited retinal diseases.
Dr Caroline Kilduff is an ophthalmology specialist trainee, who studied Graphic Design at Central St Martin’s before entering medicine. She has contributed to the graphics throughout the website in order to aid the users understanding of the topics covered.
Other members of the clinical team to be thanked are Dr Hannah Dunbar (Low vision expert and senior optometrist), Vijay Tailor (Extended role orthoptist), Elena Schiff (Genetic counsellor), Jean Cavanagh (Family Support), Miss Eibhlin McLoone (consultant paediatric ophthalmologist), Dr Theodora Mantzari (Foundation year doctor and MSc Ophthalmology), Dr Valentina Di Croce (Foundation year doctor and MSc Ophthalmology) and Dr Mehran Hamedani (GP trainee, BSc, MSc Ophthalmology), Dr Daniel Jackson (Ophthalmology specialist trainee), Dr James Wawrynski (ophthalmology specialist trainee), Urvi Karamchandani (Medical student), Teodora Pampu (Medical student), Drs Vy Hoang (Foundation year doctor) and Dr Adam Ali (Foundation year doctor).
5) Professor Mariya Moosajee’s research team
Special thanks to the whole research team for their constant enthusiasm and help:
Dr Suzannah Bell (Clinical Research Fellow), Dr Vivienne Kit (Clinical Research Fellow), Dr Maria Toms (Research Fellow), Dr Cecile Mejecase (Research Fellow), Dr Dulce De Lima Cunha (Research Fellow), Philippa Harding (PhD student), Jonathan Eintract (PhD student), Hajrah Sarkar (PhD student), Lyes Toualbi (PhD student), Natalia Jarosynska (Research Assistant) and Natasha Ward (Research Assistant).
Finally, thanks to all contributors including our patients, parents and friends who tested the website.