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Characterising the fundamental cell biology of CLN8 disease for the purpose of developing drug strategies, biomarkers ad and potential therapies.

“CLN8 has challenging biology, as the exact function of the protein remains unknown. It is believed to have an effect on possibly two other important structures within the cell (not just the lysosome). There is a major unmet research need and is underrepresented in current active research worldwide. Potential experts on CLN8 need to be engaged and new groups attracted to the field. This project aims to do this with collaborators including experts from other Lysosomal storage diseases and some of our colleagues from the BATCure consortium.”

Emyr Lloyd-Evans, PhD Senior Lecturer, School of Biosciences, Cardiff University

Who is involved?  

In October 2017 the BDFA were delighted to announce the award of £33 000 to Dr. Emyr Lloyd-Evans for a 3-year PhD studentship and Rafael Andrés Badell-Grau commenced his studies in October. This is a joint venture between the BDFA and Cardiff University, with matched funding from the Life Sciences Research Network Wales.

“Using the knowledge and skills I have learnt during the Masters I looking forward to undertaking a PhD at Cardiff University with Dr Lloyd-Evans exploring and expanding our knowledge of the mechanisms behind CLN8 disease. What are the key differences between healthy cells and CLN8 cells? Based on our findings we will then consider if these key events and differences are potential therapeutic targets and how they could be exploited to make an effective drug screen”

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