Laying the foundations for understanding developmental and epileptic encephalopathies caused by changes in the RNU2-2 gene
Explore Pilot Study
£39,154
Dr Adam Jackson
University of Manchester
Around 50% of children with epilepsy and developmental delay do not have an answer despite our most advanced genetic testing. Focussing on individuals with unsolved neurodevelopmental disorders, we recently discovered two new types of epilepsies with developmental delay caused by different changes in a gene called RNU2-2. We propose to conduct preliminary studies to improve the understanding of these two novel genetic epilepsies. These are worthwhile investigating because these are amongst the commonest genetic epilepsies known to us, and we estimate several hundred thousand people in the world to be affected by these conditions.
This pilot study will create a dedicated patient registry and a biobank for these conditions. We will perform the first detailed study of the clinical features of people with RNU2-2-related epilepsies, thus directly contributing to the knowledge. This project will also generate condition-relevant stem cell models that will enable more detailed studies in the future. Also, we will test how the changes in these genes may be impacting cell function providing insights into disease mechanism. Together the resources, the data and results generated from this study will add substantially to our knowledge of epilepsy and help conduct bigger studies in the future. This study has the potential to help hundreds of thousands of people affected by RNU2-2 related epilepsies by improving their diagnosis, management and treatment.
This work aims to better understanding the clinical presentation and natural history of one of the most common forms of DEE. This work will improve understanding of treatment as well as identification of key drivers behind seizures in DEE through RNA-sequencing.
