Genuity Science is working with one of Ireland’s largest children’s hospitals, CHI at Temple Street, on The Genuity Science Rare Disease Programme, which began in 2016. The aim of this programme is to support clinicians, families, and patients with paediatric rare disorders where the suspected cause is genetic.
Through this programme, children with undiagnosed disorders, along with their parents, can have their whole genome sequenced by the Genuity Science genomics laboratory, at no cost.
The family’s genetic code is analysed by a dedicated team of researchers alongside the child’s clinical information, which is provided with the consent of parents, in order to search for any potential disease-causing variants that could explain the child’s condition. Genetic findings are reported back to the clinician
which may help them to reach a diagnosis.
In cases where no disease causing variant is identified on the first analysis, Genuity Science will periodically review those families with a negative research result for 6 years in the hope that new research and evidence may emerge over time which may lead the team to identify the cause of their child’s disorder. Consequently, more families could receive a diagnosis over time
As the Genuity Science Rare Disease Programme advances, with access to Genuity Science's state-of-the-art genomics lab and the most advanced technology available, the dedicated research team are beginning to see results.
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Read about our findings below
Expansion of the phenotype of biallelic variants in TRIT1
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If you would like to know more about Genuity Science’s Rare Disease Programme or if you would like to tell us about your experience with this programme, please complete the form below. Genuity Science will use this information to register your interest in the Genuity genomics research study on Rare Diseases