Alain MÉRIEUX, sponsor of A Spark for Isaure …
“Too many patients suffering from rare diseases remain today without any therapeutic response. Particularly when it comes to children, we cannot remain indifferent to their distress and that of their families.
This is the case with epileptic and developmental encephalopathy caused by a mutation in the KCNT1 gene that affects baby Isaure.
I am happy and proud to support the family of this child and the Endowment Fund “A spark for Isaure … and genetic research” that they have created.
This endowment fund aims to advance clinical research on this orphan disease to improve knowledge of its mechanisms which will enable new experimental treatments, and thus to give a chance of survival to all children affected by this pathology in the world. Teams of researchers on both sides of the Atlantic are already at work and I know the high quality of the members of the scientific council of this endowment fund.
We must mobilize to, very quickly, finance this work and create the spark that these children need so much. Join us!”
Alain Merieux
President of Institut Mérieux
ISAURE’S STORY …
Like several thousand parents around the world, Marie and Henri are confronted with their daughter’s orphan disease.
Today, rare genetic diseases still suffer from a lack of investment and therefore of research, plunging parents and siblings into a sea of unknowns , facing a lot of unanswered questions, great ambiguity… Which lets us foresee a daily life filled with distress and anxiety.
EPILEPTIC ENCEPHALOPATHY DUE TO THE KCNT1 GENE MUTATION
The KCNT1 gene mutation results in a rare epileptic and developmental encephalopathy characterised by: onset in the first six months of life, focal seizures arising independently in both hemispheres, marked drug resistance and severe long-term cognitive impairment.
To date, there are no medication that have been shown to be effective in reducing the frequency and duration of attacks, but innovative therapies are beginning to emerge. It is for this reason that “Une étincelle pour Isaure… et la recherche génétique” (A spark for Isaure… and genetic research) has decided to mobilise to promote and develop preclinical studies to better understand the underlying mechanisms and thus try to save the lives of these children.
Our missions
The aim of “A spark for Isaure… and genetic research” is to directly and indirectly support scientific research projects and their clinical applications for the treatment of epileptic encephalopathy linked to the KCNT1 gene mutation.
Support
the research
fundamental
Providing access
to the care of
target patients
affected by
the pathology
Scientific advisory board
“Une étincelle pour Isaure… et la recherche génétique” is supported in its projects by a Scientific Council made up of doctors, geneticists and researchers specialised in neuropediatrics and rare genetic diseases at both national and international levels. Together, the Council contributes to the development of the programme of actions carried out by “A spark for Isaure… and genetic research”.