Avril Watson MSc, Stem Cell Research Group, Newcastle University
Pluripotent stem cells have completely revolutionised scientific research. These cells are a unique type of cell that have the ability to become any cell type in the body. Interestingly, we can make these cells from blood or skin samples from adults and generate person-specific stem cell lines. With these cell lines, we can make patient-specific organs to help us understand more about certain diseases and subsequently, develop new potential therapies to reduce symptoms or cure the disease.
In our research group, we use this technology to model different types of eye disease such as Retinitis Pigmentosa, Stargardt Disease and Retinoblastoma. We do this by making patient-specific stem cells and turn them into patient-specific mini-retinas, which we grow for up to 210 days. The development of these mini-retinas (sometimes called retinal organoids) closely matches the rates of retina formation in developing humans in the womb. This seems to be the case up to 30 weeks. They contain all of the major cell types of the retina with some evidence of early functionality with premature light responses.
These mini-retinas offer unique insights into how an inherited retinal disease presents during development. They provide a large source of material to perform extensive experiments with. This is particularly important for retinopathies we don’t fully understand or know the mechanisms behind the condition. Mini-retinas are also extremely useful and important for drug development. We can generate large amounts of these and test different drugs on them to see if they have an effect, as well as testing if they are safe to use. Successful candidate drugs can then move forward to further testing and hopefully end up in the market as a therapeutic.
In this talk, I will bring you through our retinal models and the interesting findings we have made through their use. By the end, I’m sure you will be fascinated by what we can learn from these small retina replicas.
Avril is a PhD student at the Stem Cell Research group in Newcastle University. She works under Prof. Majlinda Lako, whose lab is dedicated to modelling diseases of the eyes with the use of stem cells. She holds a Bachelors in Genetics and Masters in Immunology from Trinity College Dublin, where she first researched inherited retinal disease by participating in the Target 5000 study. This study aimed to sequence the estimated 5000 individuals in Ireland who live with inherited blindness, to identify the mutation causative of their condition. This research kickstarted Avril’s interest in researching inherited retinopathies, with a particular interest in genetic diagnosis. Avril’s current work during her PhD focuses on Stargardt disease, where she is working with two patients to genetically solve their case through the use of retinal organoids and novel sequencing strategies.