Progress in UK-wide rare disease genomics initiative

29 July 2013

Clinical researchers, hospital managers, officials from the Department of Health and many others gathered at Downing College in Cambridge earlier this month to discuss progress made during the first year of operation of the NIHR Rare Diseases Bioresource, based at Addenbrookes Hospital in Cambridge. 
 
This exciting and highly collaborative project aims to recruit thousands of patients from across the UK and Europe with rare diseases (many of which are caused by genetic defects) to donate small blood or saliva samples from which researchers can extract their DNA for sequencing and analysis. In one of the largest research studies being undertaken within the Rare Diseases Bioresource initiative, clinical researchers have begun to sequence the exomes (the 1% of the genome that contains our genes) of 5000 patients with a wide range of rare diseases. Their aim is identify the gene mutations that underlie these often highly debilitating conditions. The researchers hope that their results will give both patients and clinicians greater insight into disease, and most importantly, identify new ways that they might be treated now or in the future.
 
As noted by Prof. Patrick Maxwell (Regius Professor of Physic, University of Cambridge) in his address to the meeting, rare diseases are a significant public health issue. While each individual disease may affect very few people (often defined as fewer than 5 in 10,000), there are over 6000 such diseases, and so in aggregate they affect a significant proportion of the population. Furthermore, by studying the rare cases of diseases such as dementia and obesity that are caused by inherited genetic mutations, researchers have already show that great insights can be made into the origins of the more common ‘non-genetic’ forms of these conditions. The impact of the NIHR Rare Diseases Bioresource may, therefore, be more widely across the population than its name initially suggests.

Comment: Initiatives such as the NIHR Rare Disease Bioresource are pioneering the introduction of genomic medicine in the UK. As the Chief Medical Officer Dame Sally Davies noted in her remarks at this meeting, rare diseases are also a key focus of the 100,000 genomes project. The PHG Foundation is engaging with leading researchers from the NIHR Rare Diseases Bioresource, through our Realising Genomics project, to ensure that lessons learned from these early research-focused initiatives can be built upon in the implementation of the 100,000 genomes project. Understanding how to manage the tensions between the demands of research and clinical care, and to balance patient privacy with the need to share their genomic data to advance understanding of their disease are just two of the key challenges that we aim to address through our collaborations with researchers and health care professionals. 

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