“We are excited to be partnering in this ground-breaking project to discover the genes underlying rare genetic diseases, which may lead to offering new tests and pave the way for new opportunities for treatment,” said Professor Mark Caulfield, Genomics England's Chief Scientist.There are an estimated 7,000 rare diseases and about 3.5 million people in the UK will be affected by a rare disease at some point in their life. “I am confident that the pioneering medical research by doctors, nurses, and scientists across the UK will receive broad support from the rare diseases community,” said Alastair Kent from Rare Diseases UK. Sarah-Jane Marsh, Chief Executive at Birmingham Children’s Hospital, added, "More than 5 percent of babies are born with a genetic disease. At the moment, too many of the affected families are unable to access the best diagnostics and treatment available.” The Rare Diseases Genomes Project will help to address this gap, and make the NHS a world leader in rare disease care. The cumulative knowledge which will be gained from collecting this data will improve treatment for many patients in the NHS and across the world. About the University of Cambridge The University of Cambridge was established over 800 years ago and is made up of 31 colleges and more than a hundred departments. Cambridge is one of the top-ranking universities in the world. Its mission is to contribute to society through the pursuit of education, learning, and research at the highest international levels of excellence. At the heart of that mission are its core values of freedom of thought and expression and freedom from discrimination. The University of Cambridge ( http://www.cam.ac.uk/) has been the birthplace and touchstone for many of the most significant scientific breakthroughs since science began. After Cambridge celebrated its eight hundredth anniversary year in 2009 its eyes are firmly on the future, and ensuring that the modern University continues to be a leading international centre for study and research. Find out more at www.cam.ac.uk. About Cambridge University Hospitals and the Cambridge Biomedical Research Centre Based within the most outstanding NHS and University partnerships in the country, the NIHR Biomedical Research Centres are leaders in scientific translation. They receive substantial levels of funding from the National Institute for Health Research (NIHR) to translate fundamental biomedical research into clinical research that benefits patients and they are early adopters of new insights in technologies, techniques, and treatments for improving health. The Cambridge Biomedical Research Centre ( http://www.cambridge-brc.org.uk/) coordinates the NIHR BioResource. About Genomics England Ltd. Genomics England ( www.genomicsengland.co.uk) was incorporated on 17 April 2013 as a company to take forward the Prime Minister’s 100,000 Genome Project. The Project will introduce high-tech DNA mapping for rare diseases patients and those with cancer or infectious diseases and link that new data to the patient’s medical records. This will give doctors a new advanced understanding of a patient’s genetic make-up, condition, and treatment needs, ensuring they have access to the right drugs and personalised care far quicker than ever before. Genomics England Limited is owned by the UK Department of Health. About Illumina Illumina ( www.illumina.com) is a leading developer, manufacturer, and marketer of life science tools and integrated systems for the analysis of genetic variation and function. We provide innovative sequencing and array-based solutions for genotyping, copy number variation analysis, methylation studies, gene expression profiling, and low-multiplex analysis of DNA, RNA, and protein. We also provide tools and services that are fueling advances in consumer genomics and diagnostics. Our technology and products accelerate genetic analysis research and its application, paving the way for molecular medicine and ultimately transforming healthcare. About Birmingham Children’s Hospital Birmingham Children’s Hospital NHS Foundation Trust provides the widest range of children’s health services for young patients from Birmingham the West Midlands and beyond, with over 240,000 patient visits every year. The Trust is the lead site for the national NIHR paediatric rare disease programme, a nationally designated specialist centre for epilepsy surgery and a trauma centre for the West Midlands and a national transplant centre. The hospital is a centre of excellence for complex heart conditions, the treatment of burns, cancer, and liver and kidney disease, and is also home to one of the largest Child and Adolescent Mental Health Services in the UK.
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