Congenica welcomes Cambridge Rare Disease Network initiative

Inaugural conference to address needs surrounding rare diseases.

The first sign that a child has a rare disease is often when they fail to reach key developmental milestones or, alternatively, when they start to lose abilities, such as walking or speaking. Finding a treatment for these conditions is dependent on understanding the cause of the disease. The Cambridge Rare Disease Network is set to play a key role in this, according to Dr Tom Weaver, CEO of Congenica, one of the sponsors of the 2015 Summit taking place at the Judge Business School in Cambridge on 14th September.

Tom explains: “Although collectively rare diseases affect millions of people worldwide, the number of individuals with any one particular condition is very small. This means that finding a cure is difficult, as there are so few patients for clinical trials and the market is not large enough to justify a big investment in drug development.”

Tom believes that by bringing all the stakeholders together the Cambridge Rare Disease Network will help find ways to overcome this challenge. He says: “Currently diagnosis for these diseases is time consuming; hospital consultants may see only one or two cases in their whole career and trying to identify a rare disease by the clinical features is difficult; many conditions share similar symptoms and these may vary according to the individual.”

“What we do know is that in many cases the rare disease is caused by a mutation in a single gene. So establishing a molecular genetic diagnosis is much more precise and this creates a potential target for the development of drug treatments.”

Cambridge-based Congenica is a spin-out from the Wellcome Trust Sanger Institute was founded by scientists and clinicians at the leading edge of genome analysis and genomic medicine.

Congenica’s technology, Sapientia™, identifies single gene mutations in the DNA, but not all of these changes result in a disease. This is where the involvement of patient groups and clinicians is vital. With their help, Congenica is building up a knowledge-base that associates disease symptoms with a specific mutation and this will assist in identifying other patients with these conditions and speed the development of treatments.

Sapientia has been validated by Genomics England and is already being used within the NHS, for example at the Manchester Centre for Genomic Medicine and Great Ormond Street Hospital for Children, to help improve genetic diagnosis, but the software is continually being developed.

Alastair Kent, a founding member of the Cambridge Rare Disease Network and Director of the Genetic Alliance UK says: "The Cambridge Rare Disease Summit will bring together these stakeholders (academia, industry, the health service and patients and families) for an agenda setting event that will hopefully mobilise activity and bring benefits for patients a step closer."

Professor Stephen Hawking will open the inaugural Cambridge Rare Disease Summit at the Cambridge Judge Business School on Monday 14 September.

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