Medical Research: International Rare Diseases Research Consortium

Lord Patel Excerpts

Thursday 28th February 2013 Lords Chamber

[Earl Howe]

I am grateful to my noble friend and I extend my sympathies to his wife. Unfortunately, with many very rare diseases, it often takes a great deal of time for a fully fledged diagnosis to be arrived at. I welcome the suggestion put forward by Rare Disease UK for co-ordinators and we will certainly look at that idea positively. I can tell him that the imperative to look at rare developmental disorders in children is the focus of a project that the NIHR and the Wellcome Trust are funding through the Sanger Institute in Cambridge. Scientists are analysing the genomes of 12,000 children with developmental disorders who could not be diagnosed following routine genetic evaluation. We are hopeful that that will produce some interesting results.

[Lord Patel]

My Lords, I declare an interest in that my university is involved in finding treatments for some rare diseases. An international collaboration has set the ambitious goal of finding treatments for 200 rare diseases by 2020. One of the important research areas has already been mentioned, which is the sequencing of the genome of patients with rare diseases. The other area, which alludes to the question asked by the noble Lord about the care of those patients, is that of finding new diagnostics so that we can diagnose those diseases early. What are we doing through the NIHR or through biomedical research centres to encourage the development of new diagnostics for those diseases?