BlueBee is proud to be a Bronze Sponsor of the Cambridge Rare Disease Summit 2015, held on Monday 14th September at the renown Cambridge Judge Business School, UK.
The Cambridge Rare Disease Network (CRDN) is bringing together 150 key stake holders to debate on how best to address the huge social and therapeutic unmet needs in the rare disease field.
Rare disorders are of focus of the £300-million initiative from National Health Service (NHS in UK), that also aims to sequence patients with cancer and infectious diseases. The plan is to sequence a total of 100,000 whole genomes by 2017.
Form the 100,000 genomes, 3500 are people with rare diseases, and key to their wellbeing is first to diagnose their disease, which requires a step towards full genome sequencing rather than focus on a selection of known genes in order to diagnose and have a better picture of the disease. It gives a massive advantage to the patients, their clinician and their parents to have a better understanding of what they have and what they don’t have.
Several initiatives have been taken towards understanding and researching into rare disease. Congenica a company also participating at the event and part of the 100,000 genome project has taken the challenge of analysing DNA form 12,000 children, part in the Deciphering Developmental Disorders Study (the largest nationwide disease sequencing programme).
The growing interest of drug companies and service providers in rare diseases is the result of years of successful and growing patient activism. Patient communities raise money, support research and sometimes reach out personally to drug companies.
However the full genome re-sequencing is done only in rare cases — yet a number of large-scale initiatives are poised to bring whole-genome analysis into routine medical care.
At BlueBee we are determined that our solutions can be part of task. With our high performance genomics solutions we can help clinics reduce the time-to-diagnosis by affordable processing of large volumes of data. Currently working with several research institutions to accelerate their genomics analysis capability we are helping in early detection, prevention and treatment prescription of diseases such as cancer and rare disease.