17/04/2021
'Pelayo and zebrafish helping in rare diseases research'
The main goal of our project is to develop, through CRISPR-Cas9 genetical edition technology, a zebrafish model useful for the study of “ultra-rare” diseases with extremely limited number of patients, for which the capability of a mutation to induce a disease needs confirmation. For such, a CDG subtype associated to a mutation in the RFT1 gene. From this point, a model will be available for studying the potential triggering factors, histologic, metabolic or physiological changes, and for testing specific treatments.
Only one patient with this mutation is known in Spain: Pelayo, a small two-year old superheroe who fights for carrying on and hopes for a small genetically modified fish to bring light to this disease and contribute to the pursuit of a treatment for affected children. This is not science-fiction! Several rare diseases have found a cure through similar strategies.
Congenital Disorders of Glycolysation (CDG) are severe and very rare diseases with a prevalence between 1/50.000 and 1/100.000