Bringing Genomics to the Clinic: upcoming event of the Cambridge Rare Disease Network

What is a rare disease?

Rare (or orphan) diseases are defined as conditions affecting less than 1 in 2,000 people in the EU, or less than 200,000 people in the US, or less than 50,000 people in Japan.

In the UK, 1 in 17 people has or will develop a rare disease at some point in their life. There are approximately 6,000 rare diseases identified today and the number is growing. 75% of all rare diseases affect children and 30% of rare disease patients die before the age of 5.

80% of rare diseases are of genetic origin, whilst 20% are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.

Rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease, but also from patient to patient suffering from the same disease.

Rare diseases are often chronic and life-threatening and are difficult to diagnose. On average, it takes 6-8 years to diagnose a rare disease.

One of the biggest problems is that usually there are no drugs specifically targeting a given rare disease. And since the potential market segment would be quite narrow, pharmaceutical companies are usually reluctant to engage in development of drugs for rare diseases.

Cambridge Rare Disease Network

The Cambridge Rare Disease Network (CDRN) is a non-profit organisation bringing together patients, activists, entrepreneurs, academics, healthcare professionals and policy makers.

It was launched in April 2015 by researchers and patients with the aim to create rare disease awareness and build a community within the Cambridge area. CDRN organises regular events where they invite the active stakeholders in rare disease research and development.

On June 25, 2015 the Cambridge Rare Disease Network will organise an event called “Rare disease diagnostics: Bringing Genomics to the Clinic”. It will take place in the Judge Business School in Cambridge between 18:00 and 21:00.

During this event, the opportunities and the challenges of DNA sequencing technology in a clinical setting will be discussed with some of the experts in the field. Invited organisations include Genomics England, DDD project, PHG Foundation and DNAdigest.

Book your free ticket here.

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1 Response

  1. December 2, 2015

    […] spead up solving monogenic “Mendelian” disorders. But a large fraction of patients with rare diseases still remain without a […]

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