Prof Downes has a national and international reputation in the field of inherited retinal dystrophies (IRD) with over 30 years of research and working in the
field. The subject of her Medical Doctorate was inherited cone and cone rod dystrophies, and she described the phenotype genotype correlation in a novel gene (GUCA1A) the first purely cone dystrophy
gene to be reported at that time. Since then, she has published numerous papers in IRD phenotype genotype correlation, working in collaborations across the UK and internationally, which have
contributed significantly to the knowledge in this field. In recognition of this she was listed in the European Vision Institute’s top excellent Women in research in 2021 and received a leadership
award from the Nuffield Department of Clinical Neuroscience for her contributions in 2023. Downes set up the Eye Research Group Oxford (ERGO) in 2008, now a 20 member multidisciplinary team, for
which she is lead. ERGO provides support for all the clinical trials in the Oxford Eye Hospital as well as collaborating closely with the vision scientists within the University, and international
collaborations. In recognition of this initiative Downes received a Gold Award for Leadership and Innovation from the Oxford University Hospitals NHS Foundation Trust in 2014. She is a regular
presenter at patient support groups -one example is the Macular Society webinar on age related macular degeneration August 2024. She set up Oxford as one of the three UK Centres for the
European Reference Network for Rare Eye Diseases (ERN) and has recently set up the Kellogg Oxford Eye Centre with a remit for research and education into visual impairment, which is due to be
launched in June 2025. Downes together with her genetics colleagues recognised the importance of genetic testing in inherited retinal degeneration. Their first step was to work with the Clinical
Genetics lab to analyse the ABCA4 gene using direct sequencing. This was successfully translated into NHS practice with Oxford providing the first ABCA4 gene testing on the NHS preparatory to
introducing Next Generation Sequencing testing and after working with the clinical genetics laboratory and BRC Oxford was selected as one of 3 centres in the UK providing specalised genomic eye
testing. She also set up a regional specialist Ophthalmic monthly genetics meeting to link the research and the NHS teams to ensure that eligible patients would benefit from access to research
projects to further investigate unsolved cases of IRD. This refined the clinical patient pathway by translating research into NHS practice. Downes and other IRD specialists set up a collaborative
research consortium in 2011, to enable collaborative research across the UK, called the United Kingdom Inherited Retinal Disease Consortium (UKIRDC), which has been highly successful; there are four
original PI’s of whom Downes is one. The UKIRDC funded since 2011, has identified novel genes, collaborated internationally, and refined bioinformatic pipelines and produced multiple publications.
All of this has led to an increased number of solved cases enabling diagnoses for patients as well as contributing to a significant increase in expertise in phenotyping, bioinformatics and clinical
pathways for patients with IRD as well as DPhil supervisions in this field. In addition to her specialist interest in inherited retinal disease, she led the Medical retina Service at the Oxford Eye
Hospital from 2000 until 2021, led on getting the community chronic eye disease centre in Wantage up and running, and works in Oxford and London in the field of medical retina. She has been involved
in the design of several clinical trials, as well as chair of the steering group for these. Downes also is a specialist in the management and treatment of age related macular degeneration, and
macular diseases, and is currently co-supervising a DPhil in AMD and the role of genetics/inflammation and potential of optogenetics in this condition. She is also collaborating with industry and
with InnovateUK as part of team developing an app to identify visual deterioration in patients with AMD and to provide educational resources for patients with AMD as part of this app.
In 2001 Downes co-set up a national specialist interest group and forum for Ophthalmologists, Geneticists, researchers, and others involved in inherited ocular
disease . She named it the United Kingdom Eye Genetics Group UKEGG, co-designed the original website and hosted the inaugural meeting in Oxford, chaired the group in 2016¬ -2017, and is a current
member. UKEGG holds annual meetings, and is recognised by the Royal College of Ophthalmology, with a key role in disseminating information in the field of ocular genetics including therapeutic
research trials, as well as sharing expertise in this highly specialised field. Susan has made a significant contribution to teaching and training; she was the Ophthalmic Foundation lead and 5th year
medical student lead from 2015 to 2022. She has provided research projects, case reports, audit and quality improvement projects as well as supervising and examining PhDs, and coordinating national
and international placements with supervision at the Oxford Eye Hospital. She received sd.jpg the teaching award from the Nuffield Department of Clinical Neurosciences in 2021. Downes is regularly
invited to give updates in her field nationally and internationally, she has continued to keep up to date in the field; whilst working full time completed an MSc in genomic medicine with a
distinction in 2018. She is involved in novel approaches such as artificial intelligence (AI) in IRD and is coPI on a study currently investigating the potential of AI in diagnosing IRD.
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