IP: Dr. Antonio Salas Ellacuriaga

Resumen del proyecto: Meningococcal disease is an infectious entity caused by the bacteria Neisseria Meningitidis that constitutes the main paediatric infectious mortal disease in developed countries. Tens of children die every year in Spain due to this process. Among those that survive, at least one third will do it with mutilations or severe sequelae despite the advances in early diagnosis, therapy and prevention through vaccination. The exact mechanisms determining the clinical expression and the prognosis of this infection are unknown, being the result of the complex interaction between host factors and the microorganism. The identification of genetic factors that might influence the individual pattern of response to meningococcal infection would allow us to modify the course and outcome of our children with meningococcal disease. A prospective design using a multicenter net including 40 paediatric critical care units (necessary requirement to be capable of recruiting also the sickest children before they die, what may actually happen in few hours) is being applied. The potential relationship between the clinical and evolution pattern with the patient genotype will be studied applying the common variation- common disease hypothesis. A Genome-Wide Association Study will be carried out for each samples; the top best SNP candidates will be replicated in two independent cohorts coming from external colaborators The identification of genetic factors of predisposition or protection will fundament the future farmacogenetic and farmacogenomic development of meningococcal disease, from both preventive and therapeutic perspectives.

Entidad financiadora: Instituto de Salud Carloss III