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By Kristy Tsang, on 23 October 2023
In this interview as part of the Early Career Researchers series, recognising the amazing translational work being done by postdocs and non-tenured researchers at UCL, Dr Ana Alonso-Carriazo Fernández highlights her Cell and Gene Therapy Therapeutic Innovation Network (TIN) Pilot Data Scheme awarded project, developing a novel approach to treat Late-Onset Retinal Degeneration using CRISPR/Cas9 gene therapy.
The title of my project is “Validation of targetable SNPs of C1QTNF5 to treat Late-Onset Retinal Degeneration using CRISPR/Cas9 gene therapy”. The title might seem complicated, but the premise of the project is quite simple: we want to look at the DNA of different patients that share the same disease (Late-Onset Retinal Degeneration, L-ORD), to see if they not only share the same mutation in C1QTNF5, but if they also have other, non-disease-driving DNA variations in the same region. These DNA changes can then be used to cut out the mutated DNA using CRISPR scissors, to slow down or even stop the progression of vision loss.
The disease I focus on has a dominant hereditability, meaning not only patients will lose their sight, but their progeny also has a 50% chance to have the disease, and currently there are no treatments available for them. I wanted to develop a preventive approach, that could not only delay the loss of vision, but also potentially halt it; and that could be applicable for both patients and their offspring. As this approach also focuses on targeting shared DNA changes in the population, this approach could be used for multiple patients regardless their location, background, etc., minimising the cost and maximising the number of patients that could benefit from this therapy.
The Cell & Gene Therapy TIN Pilot Data Fund was perfectly suited to my current position, career progression, and scientific goals: as a postdoctoral researcher, it allowed me to take ownership of my own research and drive it forward independently, with the objective of generating enough data to progress the research towards a higher Technology Readiness Level (TRL), secure future translational fundings and be the basis of my career progress and fellowship applications.
The application process challenged me – in a good way – to develop my own independent project and think more about the end-goals of any research question. The support received through the Grant writing workshop and 121 meetings organised by UCLTRO not only helped me perfect my application but provided me with tools and tips that will be helpful for future grants. The Pitching Skills session really helped me understand the reviewing panel’s point of view and how pitching for investors could work.
The plan is to study the stem cells from different patients that suffer from the same disease to identify shared changes in their DNA. Once these are identified, we can treat their cells with our CRISPR scissors, confirm that the mutation has been cut away or not, and check there has not been any other modifications in other genes. Hence, by the end of these 6 months, we hope to have found a common, targetable area in all these patients and successfully verified our scissors cut in the right place, with no off-site cuts. If our experiments are successful, it would mean our therapeutic approach is ready to be tested in the specific eye cells affected in patients and we would have to work on delivery strategies.
My next steps focus on securing funding to continue the progression of this project towards the clinic. Hence, I am currently writing grants to continue forward with this project and will be using the results obtained as preliminary data for the applications. Personally, I will continue to gain experience as a Postdoc, with the aim of applying for an independent fellowship in the next couple of years. This experience has also made me more interested in entrepreneurship, so I also plan to learn more and develop my skills in this field, with the idea of one day being able to spin-off this or future therapeutic approaches, and make them available to patients.
Ana Alonso-Carriazo Fernández is a Postdoctoral Researcher working in Dr Amanda Carr’s Lab, within UCL Institute of Ophthalmology. After obtaining her PhD degree in Cell Biology, Ana started her postdoctoral research in gene editing, using iPSC and iPSC-RPE obtained from patients with Late-Onset Retinal Degeneration to develop novel genome editing therapies. Ana also chairs the Early Career Committee at the Institute of Ophthalmology.
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