FAR is excited to announce the first stage of a new FAR-funded research project in collaboration with Professor Gabriele Lignani and his team at University College London (UK).

In this project, Prof. Lignani and his team, led by Dr. Jenna Carpenter, will develop and test ARID1B-targeted gene therapy tools for treating ARID1B-RD. These tools, if successful, could be relevant to all types of ARID1B pathogenic variants. In the first phase of the project, taking place over the next 12 months, the Lignani lab will develop the tools and evaluate their potential in human and mouse neurons. If there are positive results, the next phase of the project will involve evaluation of these tools in more sophisticated models, that is, in ARID1B-RD brain organoids and mouse model.

This research project complements FAR’s ASO project. While ASOs target RNA, the gene therapy tools that will be developed by Prof. Lignani target the DNA itself. This distinction has critical implications – successful gene therapy requires single dosing and has long-term effects (unlike ASOs, whose effects are temporal). The approach taken by Prof. Lignani has shown great promise in models of other comparable neurodevelopmental disorders (inc. Dravet syndrome and SCN2A-RD).Prof. Lignani is internationally recognized for his achievements in developing gene therapy approaches for rare genetic brain disorders (particularly the intractable epilepsy Dravet syndrome). He has recently been awarded the prestigious Michael Prize for the best scientific contribution to experimental epilepsy research!

We all hold great hopes for this project and are looking forward to hearing about the preliminary findings.

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