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16 November, 2020 - 12:43 By Tony Quested

Genetics advancement is in Cambridge’s DNA

Congenica’s stunning $50 million Series C last week and the backing of investors from the UK, China, Malaysia and Oman said a number of things about Cambridge’s ever-rising role in leveraging genetics to find cures for rare diseases, cancers and other potentially fatal or life-crippling conditions.

Chiefly, scientists around the world need to stay the pace with genomics developments – hence the intense international investment in the prime drivers of discovery and development. 

Alongside that, Cambridge is clearly regarded globally as a fountainhead of discovery in the field.

So let’s look at Cambridge and its inside track edge in genomics. It was in 1953 when Crick & Watson announced the discovery of the double helix, the twisted-ladder structure of deoxyribonucleic acid (DNA) which gave rise to modern molecular biology and enhanced understanding of how genes control the chemical processes within cells. Francis Crick walked into The Eagle pub and announced he and James Watson had “found the secret of life.”

Spin giddily onwards to April 2003 – a neat 50 years later – and The Wellcome Trust Sanger Institute announced the mapping of the Human Genome, 13 years after the worldwide project began. 

The HGP gave us the ability for the first time to read nature’s complete genetic blueprint for building a human being. 

Sanger was the only UK organisation involved in the project and carried out nearly one-third of the work, making it the biggest contributor. Business Weekly celebrated this achievement with exclusive interviews with Crick and leading Sanger scientists in a Wellcome-sponsored book: ‘50 Years of DNA.’

At the time Sanger scientists chatted freely about the dawn of the post-genomics era. To echo millions of children around the globe trapped on seemingly endless car journeys: ‘Are we there yet?’

Dr Matt Hurles, Congenica co-founder in 2014, current board member, rare disease genomics pioneer and current head of human genomics at the Sanger, believes we all may have been unrealistic in our desire for quick fixes following the HGP mapping. He is equally adamant today that: “This is the best time ever to be a geneticist.”

Congenica’s world-leading software enables rapid genomic data analysis at scale, performing 20x faster than industry averages and providing a 30 per cent higher analytical yield, reducing genomic interpretation costs by up to 95 per cent.

Born out of pioneering research from the Wellcome Sanger Institute and the NHS, Congenica has a global footprint supporting leading international laboratories, academic medical centres and biopharmaceutical companies. Here again, Cambridge has form. It gave birth to rapid genome sequencing through the fabulous efforts of academia spinout Solexa and that gamechanging technology has taken one upswing after another since the company was acquired by Illumina.

Dr Hurles predicts further advances thanks to Congenica and like-minded businesses working in conjunction with major biotech, Big Pharma players and academia.

Congenica is headquartered at The Wellcome Genome Campus, Hinxton 

Dr Hurles leads a research group focused on deciphering the genetic causes of severe developmental disorders and understanding how DNA mutates as it is passed from generation to generation. 

He also advises on certain aspects of the globally renowned UK Biobank which is following the health and well-being of 500,000 volunteer participants and provides health information, which does not identify them, to approved researchers in the UK and overseas from academia and industry.

He says that one of the key challenges for companies like Congenica is to get its data and technology in the hands of more scientists around the globe at an affordable price – one that does not wipe out 95 per cent of the research budget in the process. 

One of Congenica’s strengths, he adds, is the ability to deploy its core technology in different ways and to differentiated markets. Europe and the US, for example, are each globally mature markets in terms of genetic advances but have very different approaches to research pathways and commercialisation of outcomes.

Dr Hurles says: “At one level Congenica can be very happy where we are at now but we are nowhere near the end of what can be achieved. In the case of a lot of rare diseases, for example, patients still don’t get a genetic diagnosis even though this is key to identifying potential cures.

“Despite the fabulous strides made by mapping the human genome and advances since we still only know about five per cent of all the variants in the mix. We face challenging interpretation problems. We have got the road atlas but don’t have the ordnance survey map.”

Dr Hurles is encouraged by the level of engagement sought and secured by large pharma players in the last five years, acknowledging that technology alone is not the endpoint in maximising the benefit of thorough, personalised genetic exploration.

He says companies like AstraZeneca and GSK have embraced genetics to re-examine and inform their drug pipelines so that genetic evidence will in future sit at the very heart of potential cures targeted at often desperate patients. 

Dr Hurles believes we will see the fruits of those collaborative efforts in the next few years. And he predicts an upsurge in data collection among whole populations, not just individuals.

He has no doubt that the expanding capability and reach of Congenica’s own genomic analysis software and data platform has a crucial role to play in delivering the full power of genetic research and exploitation to treat crippling and killer diseases across the planet.

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