What’s our goal in this project?
The early detection of treatable rare diseases.
CRINGENES’ goal is introducing a genomic newborn screening program that allows detecting treatable rare diseases before symptoms appear, improving infantile health from day one.
This study develops through a multidisciplinary, multicentric approach, involving more than 70 professionals and research centres in 9 autonomous communities. Genetic and metabolic analysis allows detection of more than 300 treatable rare diseases in newborns.
How does the study work?
A simple and safe process for early detection.
The study consists of 4 simple steps: from the signing of the informed consent to the genetic and metabolic analysis, with results being sent home if no anomalies are detected.
1.
2.
3.
4.
Together we’re changing newborn diagnostics.
List of reviewed genes
Genes reviewed for genetic disease detection.
The table below shows the genes analysed by CRINGENES, which updates periodically into new versions. Each version includes new advances in detecting treatable diseases.
Do you have any questions?
