Dravet Syndrome UK is delighted to be involved with this research project and pleased to be able to fund the work with a £63,000 award.
Cognitive function is so important for many opportunities in life, including the chance to live independently (or with support).There is some evidence that the degree of seizure control can influence cognitive function in individuals with Dravet syndrome, but it is not the only determinant. The mutation in the SCN1A gene does not work alone and therefore this project will examine the rest of the genome to see how the variation might contribute to impairment or preservation of cognitive function, in the context of the SCN1A mutation. The aim of the work is to find ‘modifier genes’ (or elements, to be more precise), the effects of which could be manipulated in some way to help cognitive outcomes in Dravet syndrome.
To give this research the best chance of success, Professor Sisodiya is looking for 200 people with Dravet syndrome with a SCN1A mutation; 100 each in two groups at either end of the cognitive and treatment spectrum.
The first group will be under 10 years old and will have had appropriate treatment but with the most severe cognitive outcomes. The second group will be over 30 years old with treatment generally considered not ideal (eg carbamazepine) but with relatively good cognitive function.
Initially the research team will collect information and a DNA sample.
If your family member with Dravet syndrome fits into either of the categories above and you are happy for them to take part in this ground-breaking research, please email the research team now, at firstname.lastname@example.org
Thank you – without the support of our families this research would not be possible, and we all know how vital it is to understand the syndrome to improve treatment and life outcomes. This really is a fantastic opportunity to be part of ground-breaking developments and help to discover more about this condition.