In an unprecedented action, a group of families at international level and coordinated by ENACH Association, have launched a specific line of research for the subtype NEURODEGENERATION ASSOCIATED WITH PROTEIN BETA-PROPELLER (BPAN WDR45 ).
The promising results obtained in the laboratory with cellular models of the patients themselves, which later have been transferred to the clinic in an equally successful manner in the ENACH subtype called PKAN (the most prevalent of the subtypes) has led to applying the same methodology to other subtypes ENACH with encouraging results at the laboratory level.
It is personalized medicine in which it is investigated directly with skin cells of the patients themselves, which are reprogrammed to neurons. For this, families have sent cell samples of their children affected by BPAN WDR45 , with which they will work individually, to find potential therapeutic options that can be applied to those same patients immediately after the approval of their neuropediatrician.
At the head of the BRAINCURE project is Professor José Antonio Sánchez Alcázar of the Department of Physiology, Anatomy and Cell Biology at the Pablo de Olavide University in Seville, Spain.