The Dravet Syndrome Research Foundation and Dreamgenics have signed a framework agreement of institutional collaboration to promote the necessary genetic studies that can help to correctly diagnose their patients and to develop research projects and training activities related to this disease.
Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy, is a rare and catastrophic form of intractable epilepsy that begins in the first year of life, with an estimated incidence of 1 in 16,000 births. It is a developmental epileptic encephalopathy of genetic origin and falls within the pathological family of channelopathies, as approximately 80% of affected patients have a mutation in the SCN1A gene. In the remaining 20% the diagnosis is more complex, as different genes may be affected.
The Dravet Syndrome Research Foundation was born in 2011 as a result of the struggle of a group of parents who were not resigned to follow the dictates of the disease their children suffer from, thus creating the Foundation to fight the disease through research.
During the signing of the framework agreement Simona Giorgi, Scientific Director, indicated that "From the Dravet Syndrome Foundation we are pleased to announce our collaboration agreement with Dreamgenics, with the aim of promoting research projects and advancing the diagnosis of Dravet syndrome. This alliance reinforces our commitment to families and to the improvement of scientific knowledge of this rare disease."
For his part, Carlos Martínez, CEO of Dreamgenics, highlighted the importance of this type of agreement: "I would like to thank its President, José Ángel Aibar, and its Scientific Director, Simona Girogi, for the trust they place in our work. For us it is a great responsibility to collaborate with patient associations and we hope to be able to contribute to achieve a correct genetic diagnosis in patients who need it, through our extensive experience in genomic data analysis and thanks to the excellent work of our geneticists."
