Project CANGUR
The heel prick test performed at birth allows the study of some treatable diseases that, with early diagnosis, improve the morbidity and mortality of the child. Currently, the new genetic sequencing technologies could allow the study of more diseases. At present, a massive study of diseases has not yet been implemented, but there are several pilot research projects around the world.
This project aims to evaluate the opinion of genetic experts in Spain on a list of genes predisposing to paediatric cancer
Objectives:
- Consensus on a list of genes accepted by genetic experts.
- To assess the acceptability of testing for cancer predisposition genes in neonatal screening.
- Identify acceptance or rejection factors and preferences in the communication of results.
Most patients with hereditary retinoblastoma have a mutation (genetic alteration) in one of the copies of the RB1 gene. If the experts participating in the CANGUR project select the RB1 gene to be included in newborn screening, in the future, in the event that neonatal screening considers the genes selected in the project, the presence of the inherited mutation in the RB1 gene could be known after only a few hours of the patient’s life. This would allow the patient to be monitored from the first weeks of life, achieving early detection of retinoblastoma, should it appear, improving the prognosis of the disease and avoiding aggressive treatments.
Project Leader:
Vall d´Hebron
In collaboration with:
Fundació La Nineta dels Ulls
