UNLOCK GENETICS - Key Persons
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- Professor of Molecular Genetics, University College London
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- Professor and Researcher of Ophthalmology, University of Roma Tor Vergata, Consultant in Ophthalmology, Vatican City State
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- Chief Financial Officer
- Treasurer
- Vice President
Ashley is currently the Vice President & Chief Financial Officer, International for Vertex Pharmaceuticals. He is responsible for the company's financial activities outside of the US and Canada, which includes being a great finance partner to the International Leadership Team, ensuring strong oversight of accounting and controls, and taking statutory and fiduciary responsibility for the legal entities.
Ashley was drawn to Vertex because of its patient centricity, science-led approach and focus on rare diseases. With more than 25 years' experience in the pharmaceutical industry, he has witnessed the positive impact pharmaceutical companies can make to the lives of patients and is proud of the small contribution he is able to offer.
Prior to joining Vertex in 2018, Ashley worked for 3 years at AstraZeneca where he was Vice President, Group Financial Controller. Previously he spent 19 years at GlaxoSmithKline where he worked in a variety of different senior finance roles in the UK, France, Spain and Central and Eastern Europe.
Ashley holds a BSC Hons in Mathematics from Bristol University and is a member of the Institute of Chartered Accountants of England and Wales.
Outside work, Ashley enjoys spending time with his wife, Jo, and their four daughters ranging from the ages of 13 - 23.
Bhavini was diagnosed with RP in 1997 aged 17. The consultant who confirmed her diagnosis told her that "there was no cure or treatment and she should prepare to go blind. She said: "He couldn't advise me how long it would take, it would be years, months or even weeks. His words stuck with me. I tore up my UCAS Application form to study Business Law at a university away from my home town, I stopped taking driving lessons, I never accepted a social invite from my friends and slowly isolated myself."
For 15 years she was unable to accept her sight loss and hid it from those around her. But with the support of her family and Retina UK, Bhavini has come to terms with her visual impairment and made many positive changes to her life. She received support from Retina UK's helpline and attended the charity's information events and support group meetings.
She said: "At first I hid my sight loss because I felt ashamed and didn't want to be labelled disabled. This left me depressed and isolated. The support I received from Retina UK helped me find my inner confidence and realise I could still achieve my ambitions. I felt like a huge weight had been lifted from my shoulders and I started to live again."
Job Titles:
- Information and Support Manager
Associate Professor, Leeds Institute of Molecular Medicine, University of Leeds
Dr Graham undertook research into the basic mechanisms of retinal vasculitis, inflammation of the blood vessels in the retina, and is an important cause of poor vision in patients with uveitis, inflammation of the uveal tract.
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- Postdoctoral Researcher / University of Southampton
Jenny Dewing is working on a Retina UK-funded project with Dr Arjuna Ratnayaka at the University of Southampton. They are investigating how faults in the TIMP3 gene cause Sorsby Fundus Dystrophy (SFD), an inherited retinal disease that leads to deteriorating night vision and eventually to severe visual impairment.
The protein encoded by the TIMP3 gene has many important functions and is crucial to the health of the retinal pigment epithelium (RPE), a carpet of cells that lie underneath the photoreceptors in the retina to provide nourishment and support. It is not fully understood how faulty TIMP3 contributes to retinal degeneration in SFD, so Dr Dewing and Dr Ratnayaka are creating a cell-based model of the RPE to provide some answers and investigate potential approaches to treatment. Here, Dr Dewing tells us more about her work, her motivations, and challenges.
"When I saw the advert for Dr Ratnayaka's post-doc position, I was very excited as it felt like the perfect project for me, making use of all the skills I had developed through my PhD in stem cell biology and two subsequent research assistant posts. The Vision group at the University of Southampton has an excellent reputation and collaboration between clinical and laboratory-based team members makes for exciting research that is extremely valuable to patients.
Lucy has 14 years' experience in global financial markets; at Santander and Royal Bank of Canada. She leads a team developing mathematical software for trade valuation and risk management. Lucy is particularly effective at assessing complex systems and implementing solutions. She brings experience of project management, developing strategy and her knowledge of technology to our charity.
Lucy has worked with a number of charities in volunteer roles including fundraising and assistance dog training. She is a trained sighted guide for people with visual impairments. Lucy holds a First in Engineering Science from Oxford University and received her doctorate from Warwick University. She joined our Board of Trustees in 2015.
Martin spent his early career in marketing working in transport and logistics. He later worked in consultancy advising companies in the UK, US, Western Europe and Russia before moving into healthcare in 2007. During 13 years working in healthcare he has served at board level with Exemplar Healthcare Ltd, The Learning Clinic and Care UK.
Martin currently runs his own interim and board advisory practice and has recently been appointed to the boards of two care provider companies. Having studied and worked extensively outside of the UK he speaks fluent French and reasonable German.
His son was diagnosed with Stargardt's at a young age which has led Martin to take a close interest in the progress of research into Retinal disease. Martin has campaigned with the RNIB and independently to raise awareness of the lack of accessible school curriculum materials. He recently chaired a fundraising campaign that successfully raised £3.5m to build a science centre at a Buckingham school.
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- Research and Innovation Fellow
The UK Inherited Retinal Dystrophy Consortium is a unique collaboration of leading researchers, whose combined expertise provides an unprecedented opportunity to put together more pieces of the IRD puzzle by identifying causative genes and gaining insight into their function. Dr Rachel Taylor is part of the team at the University of Manchester.
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- Corporate and Community Fundraising Officer
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- Consultant
- Consultant Genetic Counsellor, Manchester Centre for Genomic Medicine
Georgina Hall, Consultant Genetic Counsellor, Manchester Centre for Genomic Medicine; Sian Sperring, Genetic Counsellor, Oxford Eye Hospital; Clare Arnison-Newgass, Ophthalmic Genetic Research Nurse / Clinical Nurse Specialist, Oxford Eye Hospital.
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- Student / UCL Institute of Ophthalmology
Hajrah Sarkar is a PhD student whose project is funded by Retina UK. Working with Dr Mariya Moosajee at the UCL Institute of Ophthalmology, Hajrah is studying a protein called RDH12, which plays an essential role in the cycle of processes that convert light into nerve signals at the back of the eye. In particular, she is looking at how RDH12 is affected by inherited mutations in the RDH12 gene, which cause Leber Congenital Amaurosis (LCA), a severe form of childhood-onset sight loss. Hajrah took some time out of her busy day in the lab to show us around and tell us about her work.
"I am really fascinated by the structure of protein molecules - how they fold to create their unique shape and how this influences their interaction with other substances. This was the focus of my Master's degree at Imperial College, and I was keen to undertake the PhD project here in Dr Moosajee's lab because it fits exactly with my scientific interests.
"When the gene providing the instructions for building RDH12 has mistakes in it, the resulting protein can end up being the wrong shape, so I am investigating the mechanics of how this affects visual cycle and, ultimately, how we might rectify the problem with future treatments. It was really important to me when choosing this project that I would be working in a team focused on translational research - that is, research that aims to translate increased scientific understanding into potential therapies.
"There is really no such thing as a typical day in the lab. In order to study disease processes, we use intricate procedures to convert skin or blood cells from people affected by RDH12 mutations back into stem cells, and from there into retinal cells. This allows us to create models of human retinal disease called eye cups, which we can study and use to screen potential treatments. I spend quite a bit of time looking after the cells, feeding them and checking that they're growing.
Job Titles:
- Professor of Genetics, Smurfit Institute of Genetics, Trinity College Dublin
Job Titles:
- Research Assistant
- Research Assistant at the Nuffield Department of Clinical Neurosciences
Jing Yu is a Research Assistant at the Nuffield Department of Clinical Neurosciences at the John Radcliffe Hospital in Oxford. He is currently working with Professor Susie Downes' team on the RP Genome Project, an initiative funded by Retina UK, which brings together leading research centres across the UK to increase knowledge and understanding of the genes associated with inherited retinal disease. Jing works in bioinformatics, an interdisciplinary field that develops methods and computer software tools for analysing large amounts of biological data and is an essential component of the search for new genetic causes of eye disease. Here he tells us about his work, his motivations, breakthroughs and challenges.
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- Distinguished Professor in Clinical Innovation in Ophthalmology, Singapore National Eye Centre
- Professor
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- Research Development Manager
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- Individual Giving Manager
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- Professor of Molecular Cell Biology, Ocular Molecular Biology and Mechanisms of Disease Group Leader, Edge Hill University
Lynda Cantor was a founder member of the charity in 1975 and one of our original trustees, and was the driving force behind its development from a small community group to a respected medical research charity, roping in many other key people along the way.
Since the formation of the charity, Lynda has contributed as much unpaid work as anyone, driven by the impact of retinitis pigmentosa on her own life and frustration at the lack of knowledge that existed in the early days.
She was also involved in the formation of Retina International. Lynda was recognised for her work with the award of an MBE in 1994.
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- Information and Support Coordinator
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- Information and Support Manager
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- Executive PA / HR Manager
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- Trusts and Major Gifts Officer
Paresh comes from over 17 years experience in business development within finance and procurement. He has worked within the healthcare space, and more recently in public sector. During this time, Paresh has worked for large commercial organisations such as Capita and Advanced.
Paresh has also been volunteering for the Metropolitan Police for over 10 years as a Special Police Sergeant where he is working within their roads / traffic team.
His wife was diagnosed with retinitis pigmentosa at the age of 17 which has led Paresh to take a keen interest in research within retinal eye diseases.
Paresh has been involved with the charity for a number of years and is looking forward to see how he can add benefit moving forward.
Prof John Marshall is the Frost Professor of Ophthalmology at the Institute of Ophthalmology at University College London; Emeritus Professor of Ophthalmology at Kings College London; Honorary Distinguished Professor University of Cardiff; Honorary Professor the City University and Honorary Professor Glasgow Caledonian University. He is one of our longest serving trustees.
His eye-related research over the past 40 years has been wide ranging but has concentrated on the mechanisms underlying age-related, diabetic, and inherited retinal disease and the development of lasers for use in ophthalmic diagnosis and surgery. This has led to the development of the Excimer laser for the correction of myopia as well as some 300 research papers and many books. John edits a number of international journals and has been awarded numerous medals for research.
He has been a staunch supporter of the organisation since its inception in the mid-1970s.
Rachael Stevens joined the board in 2014. She is affected by retinitis pigmentosa so has a particularly strong commitment to our work, both medical research and the provision of support services.
As a founding member of The Old Vic Theatre Company she acquired excellent fundraising, PR, and project management experience working in the US and UK. Subsequently as a freelance consultant she has raised money for arts projects from trusts, commercial and public sources.
Rachael is well travelled and has a young family. In addition to contributing at a strategic level she supports the charity's RP Young Professionals group and our fundraising efforts in London and surrounding areas. Rachael is also training to become a psychotherapist.
Roger has retinitis pigmentosa, as do his son, mother and grandfather. He was officially diagnosed aged 16.
Roger has worked for the past 30 years in the city in the field of Energy Insurance. He joined Sedgwick Offshore Resources in 1980 and is currently Head of the Offshore Energy and Marine division of JLT Specialty.
Roger lives near Guildford with his wife and three children. His mother was one of the original members of the charity and he has been an active fundraiser for us including running the London Marathon in 2010.
Roger brings both his personal experience and business acumen to bear in his role as Trustee.
Russ was diagnosed with Choroideremia at the age of 11, after visiting caves in Spain and not being able to see anything. He has never been able to see properly in the dark and always thought everybody was the same. He was referred to Birmingham Midland Eye Centre where they confirmed his condition. He now attends yearly appointments at Moorfields Eye Hospital in London.
Simon spent 40 years as a consultant ophthalmic surgeon at the North Hampshire Hospital in Basingstoke. He specialised in the management of retinal diseases, especially diabetic retinopathy and age-related macular degeneration, the commonest causes of sight threatening problems. In addition, he spent many years as an examiner for the Royal College of Ophthalmologists, eventually becoming Senior Examiner and chair of the College Examinations Committee. He was also Director for Examinations of the International Council of Ophthalmology, organising the assessment of ophthalmologists across the world as well as working as a performance assessor for the General Medical Council.
Simon is also interested in vision and driving, having worked as chair for the Ministry of Transport Medical Advisory Committee for Vision and Driving. He is well aware of the impact the loss of a driving licence can have for people affected with sight-threatening diseases. He also worked for a while for the International Paralympic Committee in assessing visually impaired competitors for their individual classification group.
Job Titles:
- Community and Events Fundraising Manager
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- Consultant Ophthalmic Surgeon, Moorfields Eye Hospital
- Professor
Tomasz Tomkiewicz is undertaking a PhD studentship funded by Retina UK and The Macular Society. Under the supervision of Professor Rob Collin and Professor Frans Cremers at the RadboudUMC in the Netherlands, he is studying the different genetic mutations that lead to Stargardt disease, which involves degeneration of the central retina and affects people from childhood. The studentship will allow Tomasz to lay the foundations for a future career in research in sight loss research.
Vanessa is delighted to be a Trustee of Retina UK. She is the General Counsel at the Alan Turing Institute, the UK's national data science and artificial intelligence research institute. Vanessa is fascinated about the impact data science has on our society, ethics and healthcare in particular.
Prior to this she worked for over 7 years in the City as a lawyer, first with Allen Overy as a trainee and subsequently with Akin Gump, a large US international law firm, as an associate in its Global Transactions Group. She took up a role in industry as the European Counsel in a US listed technology and engineering multinational. These experiences covered the technology, engineering, and healthcare sectors.
Vanessa has held various board and committee positions including as a trustee for the Tropical Health & Education Trust, and on one of the Law Society's ED&I Divisions as well as working for the British Counsel.