The Rare Disease Research Program at Genuity Science provides access to whole genome sequencing to children with undiagnosed disorders and their families. The aim of the project is to identify the genetic cause of a child’s disorder.
The program is provided free of charge to patients and consultants through our collaboration with Children’s Health Ireland at Temple Street Hospital. A dedicated research team at Genuity Science works with consultants to analyze a family’s genetic code using our own Clinical Sequence Analyzer, along with their health information, to identify potential disease-causing variants that are responsible for a child’s condition.
A diagnosis can mean access to new or more appropriate treatments, more specialized and coordinated care, and a better understanding of what the future may hold. For families who don’t receive a diagnosis, Genuity Science is committed to re-analyzing their data over time in the hope new research will arise which may help us to identify new genetic variants.
Watch this #ShowYourRare awareness campaign video to see how Genuity’s team are dedicated to working with clinicians to help families find answers.