Three years ago six of the world’s leading geneticists came together to found a company focused on revolutionising how rare diseases are identified, catalogued, treated and ultimately, where possible, cured. The had each been carrying out research in their own fields and in their own institutions but found themselves kindred spirits due to that core driving factor underpinning it all, the task of tackling the rarest diseases.

Their idea centred around a clinical analytics platform capable of supporting, scientists, clinicians and researchers such as themselves through the various pitfalls associated with identifying, curating and interpreting genetic variants behind innumerable rare conditions. Conditions such as cystic fibrosis, sickle cell disease or congenital hyperthyroidism which in some cases may only be found in a single individual or family.

Key to the group was Dr Richard Durbin, now Group Leader in the Human genetics program at the Wellcome Trust Sanger Institute, who was himself a pioneer in the field of human genetics being personally involved, as he was, in developing sequence data analysis tools that are now industry standards. Richard has held some of the most prominent jobs in the field and has headed a number of ground-breaking and significant projects including the seminal 1000 Genomes Project and the UK10K Genome Project.

As the group shared ideas, experiences and aspirations they sought to clarify the vision of medicine which they shared. Rare disease is, by its very definition, sporadic and information on it sparse but certain statistics caught the attention of Richard and the other founders. Firstly, 1 in 17 people will suffer from a rare disease and 80% of these diseases were genetic in origin. The picture was becoming clearer. Secondly and crucially, it took on average five years, innumerable tests and multiple clinicians and doctors to reach an accurate diagnosis yet, tragically, 30% of children with a rare disease would not see their fifth birthday. Here, they could save lives. They could utilise their expertise. They could drive forward all of medicine.

Richard would become Informatics Director and was joined by Dr. Matthew Hurles, Science Director, now Senior Group Leader at Wellcome Trust Sanger Institute who himself had pioneered analysis of whole exomes in clinically relevant disorders that previously failed diagnostic methods. Dr. Philip Beals, Medical Director, who pioneered use of next generation sequencing in pathogenesis and ciliopathies. Dr. Nick Lench, Chief Operating Officer who, as the director of the North East Thames Regional Genetics service at Great Ormond Street Hospital for Children, had responsibility for 4.5 million people. Dr. Andy Richards brought his years of entrepreneurial experience to bear as Chairman. Dr. Tom Weaver, Chief Executive Officer, who brought with him extensive knowledge and experience with start-ups and applying genomic analysis and contract service based business models to new and innovative commercial ideas.

So, it was with this handful of minds, alongside nothing but their own determination and drive that Congeinca was born in a portacabin on the site of the Wellcome Trust Genome Campus in Cambridge, England.

In just four short months their ideas were creating enough buzz to see them given an exclusive Wellcome Trust commercial license. Work was taking place in earnest behind the flimsy walls of their humble home to bring their cutting edge ideas to life.

Six months later, Sapientia launched. Things were changing for people around the country and the world who struggle with rare disease, even though they didn’t know it yet.

The splash that Sapientia and Congenica made was big enough to draw some really significant attention and they were selected in the summer of 2015 as clinical interpretation partner for the ground-breaking and now oft-copied 100K Genomes Project by Genomics England.

Sapientia was a huge success at a time when the cost of sequencing was dropping dramatically and the wider medical applications and commercial opportunities which had always been on the minds of the start-up six were drawing into ever sharper focus.

This success and the innovative new applications, improvements and modifications which they were making saw the product and the company win a number of awards the following year. Congenica won the OBN Award for best implementation of digital healthcare whilst Sapientia was awarded the NHS innovation challenge. Those behind these startling achievements were also receiving their required recognition.

That summer also brought the realisation that growth and success was to force them out of their portacabins and the company saw itself move into the prominent Bioinformatics Centre at the Hinxton WTGC site and with it come waves of new staff and funding.

As 2017 dawned so did another new step for Congenica as the company spread its wings and proved its international credentials making its first strategic appointments in the US and seeing Sapientia in use in hospitals and labs around the world. They would go on to achieve their Series B funding and spread even further into the enormous market that is China with both investments and partnerships from the Asian powerhouse.

Now, respected for their vision, revered for their expertise and rewarded for their successes those bold founding few have built a leading company and paved the way for entirely new modes of medicines which have saved and changed lives around the globe already for those suffering rare disease and those supporting them.