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Research Grant Award 2011

Research Grant 2011

Genetic factors affecting mortality, cognitive function and causes of Dravet syndrome

Professor Sanjay Sisodiya in collaboration with Professor Helen Cross, Dr Elaine Hughes, Dr Sameer Zuberi, Rachael Ellis and Eleanor Reavey

Dravet Syndrome UK are delighted to be funding this 18 month research project to the sum of £39,000.

By using exome sequencing the project aims to find answers to the following questions:

  • What underlies early mortality in Dravet syndrome?
  • What causes cognitive impairment in Dravet syndrome?
  • What is the cause of Dravet syndrome?

The researchers aim to determine whether, in addition to a possible known SCN1A mutations, other genetic factors exist that determine these patterns. They will be looking at three groups:

"Jemima was a beaming, affectionate, mischievous little girl, who was full of beans and the joy of life" Olivia & James Simmons

Children with SCN1A related Dravet syndrome who died before the age of 10 years due to SUDEP.

Adults with SCN1A related Dravet syndrome, who despite severe active epilepsy, have good cognitive function and longer lives.

Individuals with Dravet syndrome with no know mutation or deletion of SCN1A, and no known mutation of PCDH19, SLC2A1, CDKL5 or STXBP1

This project shows true collaboration across neurology institutes and hospitals across the United Kingdom, as well as collaboration between paediatric and adult neurology services. DRAVET Syndrome UK are delighted that our four professional advisers have come together on this project showing their commitment and dedication to Dravet syndrome in both children and adults.

This grant was partly funded thanks to the overwhelming generosity of two of our families who tragically lost their precious children.

Louis Millhouse passed away at just 2 years old. Mum Kerry states “Louis was such a beaming ray of sunshine and lit up everyones life. He lived his life to the full and everyday was fill of joy and happiness. Despite his condition he exceeded all expectation and gave so much love in abundance. It is so important that more research is done to understand this extremely rare condition so that others may benefit in the future”.

Jemima Simmons very sadly passed away in October 2010, the day before her 2nd birthday. Olivia and James, Jemima’s Mum and Dad have said that "Jemima was a beaming, affectionate, mischievous little girl, who was full of beans and the joy of life. She has left us with memories that we will treasure forever. We and her big sister, Charlotte, miss her every single day. We are pleased that the money raised in her memory will be used to help other children and their families who suffer from Dravet syndrome".

Research Grant Award 2011 – UPDATE

Professor Sanjay Sisodiya

Exome sequencing is still a developing technology, in the sense that it cannot be done everywhere by anyone, but needs to be undertaken carefully. Once technical issues are overcome, then analysis of the data is the next challenge, as this technology produces a vast amount of data that needs to be carefully examined to find any real causes of a given condition. However, the strategy can certainly prove successful.

With this study, we were keen to be particularly careful. One component of the study was to search for possible risk factors for the devastating outcome of SUDEP in Dravet syndrome. Obviously, any DNA samples we have from children who have sadly succumbed to SUDEP are irreplaceable. We therefore wanted to undertake the sequencing in a very experienced unit.

There has been good progress along this and other lines. Firstly, the sequencing is going to be done at the Wellcome Trust Sanger Institute near Cambridge. The Institute is the country’s leading sequencing centre (and indeed a leader on the world stage). They have enormous experience, and we are therefore confident that the samples will be handled carefully. We will also benefit from their experience in analysis.

Secondly, we have also secured collaboration with Professor Ingrid Scheffer from Australia, who has sent across additional samples for analysis.

Thirdly there is at least one other group in Europe is working along similar lines and we have agreed to keep each other informed.

The samples were prepared and shipped to the Sanger on the 20th August. Processing and analysis will take 3-4 months – this is the expected time currently for such work.

Professor Sanjay Sisodiya