Dr Hurles (pictured above right) is also co-founder of Congenica, a world leading developer of genome-based discovery and diagnostic technologies, who will be demonstrating their Sapientia™ diagnostics platform in the exhibition.
The Deciphering Developmental Disorders (DDD) study aims to use new genomic technologies to improve the diagnosis of developmental disorders in children. It is a collaboration between the NHS clinical genetics services, the Wellcome Trust Sanger Institute and families across the UK.
The genomic technology used within DDD is based on the pioneering work of Dr Hurles and Dr Richard Durbin (pictured left). They developed techniques to identify, annotate and interpret whole genome DNA sequence data while working on the 1000 Genomes Project.
Last year Congenica was spun out from the Wellcome Trust Sanger Institute to further develop this technology, which underpins the Sapientia platform, to make it available to the NHS and others as a clinical decision support tool.
Sapientia has been validated by Genomics England. By applying Sapientia, Congenica was successful in filtering through the millions of genetic changes present in each patient’s complete DNA makeup and unambiguously identifying the single genetic change responsible for the patient’s disease.
There will be an opportunity at ESHG to talk to Congenica about Sapientia and the latest developments. Dr Hurles will be speaking on June 6th at 14.30 (abstract PL1.2)
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