8 December 2014
The clinical genomics company based on the Wellcome Trust Genome Campus outside Cambridge uses a platform called Sapientia for analysis and interpretation of genome sequences, based on knowledge developed at (and licensed from) the Wellcome Trust Sanger Institute as part of the ongoing Deciphering Developmental Disorders (DDD) project. This is using whole exome and genome sequencing to try and identify genetic causes of learning disability and developmental delay in children.
Congenica was awarded funding from Genomics England earlier this year as part of a Small Business Research Initiative (SRBI) competition to develop applications for genomic data analysis, annotation and interpretation for both research and clinical purposes.
Congenica CEO Dr Tom Weaver said that their Sapientia technology would form part of a front-line service to allow rapid clinical diagnosis of rare genetic diseases, as well as providing ‘new insights for future screening and treatment of both rare and common diseases’. They intend to work closely with clinicians and the NHS Genomics Medicine Centres (due to be announced later this month) in order to refine their genomic data analysis tools and offer a diagnostic service.
Dr Robert Tansley, Investment Director for Life Science at funders CIC said that they saw Congenica’s technology as “a powerful enabler that can realise the potential for a radically different type of genome analysis service”. This will include ‘an international knowledge base that is essential for definitive diagnosis’ - as advocated for the NHS by the PHG Foundation’s Realising Genomics project .