La Nineta dels Ulls Foundation has donated 5.711€ to VHIO’s Hereditary Cancer Genetics Group to continue developing the CANGUR project.
The CANGUR project is a joint research project between the Vall d’Hebron Institute of Oncology (VHIO) and the Vall d’Hebron Institute of Research (VHIR) within the framework of the Vall d’Hebron Campus.
VHIO’s Hereditary Cancer Genetics Group investigates the genetic complexity of hereditary cancer through multidimensional analyses and by addressing the latest advances in the diagnosis of hereditary cancer susceptibility.
Thanks to advances in genetic sequencing technologies, it is now possible to study genetic diseases, including those alterations that increase the risk of developing childhood cancer.
CANGUR PROJECT
Neonatal screening, performed by a heel prick, aims to detect treatable diseases early to improve child health.
Dr. Estela Carrasco, genetic counsellor at Vall d’Hebron University Hospital and researcher in VHIO’s Hereditary Cancer Genetics Group, explains: “With advances in genetic sequencing, it would be possible to identify genetic alterations related to an increased risk of cancer in childhood. This has motivated us to research the feasibility of mass neonatal genetic screening“.
In this context, “the CANGUR project aims to review the scientific evidence on paediatric tumours linked to genetic alterations, to evaluate the clinical actions derived from the detection in healthy children and to know the acceptance among professionals in the genetic and oncological field”, explains Dr. Lucas Moreno, head of the Paediatric Oncology and Haematology Service at Vall d’Hebron University Hospital and head of the Cancer and Paediatric Haematological Diseases Group at Vall d’Hebron Research Institute (VHIR).
With the participation of more than 45 experts from Spain, the study uses DELPHI methodologies to achieve consensus. It hopes to provide solid evidence to support the possible inclusion of genes predisposing to childhood cancer in neonatal screening programmes.
Nineta dels Ulls Foundation
The mission of the La Nineta dels Ulls Foundation is to promote research into retinoblastoma and raise awareness of it to improve the quality of life of patients and their families. The foundation works to advance research and knowledge of this disease and aims to raise funds for research.
Retinoblastoma is the most common malignant intraocular tumour in childhood. It originates in the retina, the inner layer of the eye sensitive to light. It contains the nerves that carry information to the brain to see. It can appear around 3 years, although the average age of diagnosis is 20 months. In most cases the tumour is caused by mutations in the RB1 gene. Forty percent are hereditary.
Carme Julià, president of the La Nineta dels Ulls Foundation, comments: “For the La Nineta dels Ulls Foundation, it is a great satisfaction to participate in the CANGUR project. We are convinced that this project will revolutionise the early detection of retinoblastoma, one of our main objectives”.
