Diagnosis Of Rare Genetic Diseases Receives A Boost As Congenica Gains £2M SBRI Award To Fast-Track Technology For Gene-Disease Interpretation

Published: Mar 11, 2015

11th March 2015 - Currently up many children with rare genetic disorders caused by single gene mutations do not have a specific diagnosis. To help address this issue Congenica – a spinout from the Wellcome Trust Sanger Institute – has been awarded £2m Phase 2 funding by the Small Business Research Initiative (SBRI) announced today by Genomics England. Funding will be used to increase the rate and quality of gene mutation identification and improve the accuracy of gene-disease associations in order to create robust e-diagnostics for whole genome sequences.

Dr Tom Weaver, CEO of Congenica, a leading developer of DNA sequence analytics and diagnostic technologies, comments: “We welcome the SBRI Phase 2 award as it will not only fund further development and implementation of Sapientia, our diagnostics tool, but also provides a valuable endorsement of our technology. This will accelerate the process of embedding genomic medicine into mainstream clinical practice thereby providing benefits to patients and healthcare services.”

The SapientiaTM technology is able to screen whole genome sequence data in order to identify gene mutations and highlight those that are associated with inherited and acquired genetic disorders. This information is interpreted to allow hospital consultants to make an improved diagnosis.

For families with young children affected by rare genetic disease, a diagnosis is critical for guiding management and therapy as well as enabling counselling and better informed reproductive choice.

Sapientia is built upon world leading technology developed by the Wellcome Trust Sanger Institute, including the work of Dr Matthew Hurles, co-founder of Congenica and scientific leader of the ‘Deciphering Developmental Disorders’ (DDD) study, the world's largest, nationwide genome-wide rare disease sequencing programme.

Further validation of the technology underlying Sapientia comes from findings of the DDD research project, reported in Nature and the Lancet in December 2014. These studies showed that approximately one third of previously undiagnosed children could now be diagnosed.

Dr Matthew Hurles comments: “The study has shown that identifying and prioritising those variants that have a potential gene-disease association will significantly increase both speed and accuracy of diagnosis. The SBRI funding will enable us to fast-track the latest research into patient care.” SBRI funding is designed to support the development of new commercial products to explore the diagnostic and therapeutic potential of genomics screening. The value to the UK economy was highlighted by Dr Robert Tansley of Cambridge Innovation Capital (CIC), an investment company established to help retain UK innovation in the Cambridge cluster and a lead investor into Congenica.

He says: “Government funding through SBRI helps to de-risk technology for subsequent investment. Congenica’s technology has been independently validated by Genomics England and has the support of NHS clinicians. The NHS is internationally recognised for its rigorous approach and this provides confidence in the diagnostic tool for international markets.

“There is a huge worldwide market for Congenica’s technology, there are currently 200,000 genetic tests performed each year in the UK just for rare diseases,” he continues. “We see Sapientia as a powerful enabler that can realise the potential for a radically different type of genome analysis service. SBRI is supporting the development of a new ecosystem of related businesses.”

Genomics England today (11 March 2015) announced the successful companies in its Small Business Research Initiative (SBRI) Phase Two assessment of Enabling Technologies for Genomics Sequence Data Analysis and Interpretation. Professor Tim Hubbard, Head of Genome Analysis at Genomics England commented, “For widespread use of genome sequencing in routine health care the development of accurate and reliable interpretation software is critical. We are encouraged to see new and existing companies developing products and services in this space; building on UK academic research, in part stimulated though the existence of the Genomics England, the 100,000 Genomes Project, and this competition. We believe that there is now a critical mass of medical bioinformatics translational activity in the UK that puts the UK in a good position to be a leader in the global market for genomic analysis services”.

Further information about Congenica www.congenica.com

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Notes for editors follow Media enquiries Rachel Holdsworth/Anna Masefield, Holdsworth Associates PR Tel: +44 1954 202789 or email: anna.masefield@holdsworth-associates.co.uk

About Congenica www.congenica.com

Congenica, is a world leading developer of genome-based discovery and diagnostic technologies.

Congenica is a spin-out from The Wellcome Trust Sanger Institute. It was founded by six world leading geneticists and bioinformaticians in genomic sequencing, including Dr Richard Durbin who led the international 1000 Genomes Project and the UK10K Genome Project and Dr Matthew Hurles Senior Group Leader at the Wellcome Trust Sanger Institute and a leader in the Deciphering Developmental Disorders (DDD) project.

Congenica has developed SapientiaTM technology platform, which allows genome scale DNA sequence data to be presented within a clinically actionable diagnostic report. It is based on pioneering research from the Wellcome Trust Sanger Institute, NHS clinicians and regional genetic testing laboratories.

This underlying technology has been validated by leading independent institutes and clinicians, including Genomics England Ltd.

Recent relevant papers include: Genetic diagnosis of developmental disorders in the DDD study. ‘Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data’, The Lancet, published online Dec 17, pp.1-10, Letter: ‘Large-scale discovery of novel genetic causes of developmental disorders’, Nature (2014 About the Wellcome Trust Sanger Institute

The Wellcome Trust Sanger Institute is one of the world's leading genome centres. Through its ability to conduct research at scale, it is able to engage in bold and long-term exploratory projects that are designed to influence and empower medical science globally. Institute research findings, generated through its own research programmes and through its leading role in international consortia, are being used to develop new diagnostics and treatments for human disease.

http://www.sanger.ac.uk/

About Small Business Research Initiative (SBRI)

http://www.genomicsengland.co.uk/genomics-england-announces-successful-companies-in-small-business-research-initiative-sbri-for-a-share-of-8-million/

Genomics England today (11 March 2015) announced the successful companies in its Small Business Research Initiative (SBRI) Phase Two assessment of Enabling Technologies for Genomics Sequence Data Analysis and Interpretation. £8 million is being made available for the product development stage of the competition with the companies adopting a programme of 12 to 24 months each.

This competition seeks development of technological innovations that will enhance genomic sequence data analysis capabilities. It is intended that this will support the development of new commercial products to develop the diagnostic potential of genomic screening and the wider use of stratified medicine in the UK and in world healthcare.

The SBRI funding will allow Congenica to:

• Further develop Sapientia technology to increase the rate and quality of variant identification from next generation sequence data.

• Interface platform with different end users, including genome medicine centres and clinical interpretation partnerships.

•Improve the accuracy of interpretive analysis for clinical decision support and diagnosis.

• Extend its therapeutic focus beyond developmental disorders.

• Improve infrastructure capability, such as data security and quality management.

• Create new research data mining tools for the detection of novel associations between genome variation and clinical outcome.

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