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Pint of Science: The genomic revolution – searching for a cure for the 1 in 17
22nd May, 2019 at 7:00 pm - 9:30 pm
There are 7000 rare diseases affecting 3.5 million in the UK alone. 75% affect children and include rare cancers, cystic fibrosis and Huntington’s disease. 80% of rare diseases are caused by a defect in the genetic blueprint, sometimes a single spelling mistake in the three billion letters that make up the human genome, yet can have devastating consequences. How is the genomic revolution helping?
Dr Anna Middleton - Wellcome Genome Campus
Big Data and DNA now go hand in hand. This is pivotal for exploring the link between genes and disease. The bigger the datasets the better. Most DNA data is ‘de-identified’, i.e. names and addresses have been removed but it will soon be possible to identify a person from their DNA alone. Would this stop you donating your DNA data for research? What harms can come from this? We explore what public across the world have said and how their views are shaping policy.
Dr Gemma Chandratillake - East of England Genomic Medicine Centre
On 5 Dec 2018 Health Secretary Matt Hancock announced that the 100,000 Genomes Project had reached its goal of sequencing 100,000 whole genomes uncovering new diagnoses and improved treatments for patients with rare inherited diseases and cancer. This marks the end of a chapter rather than the end of the story and earlier this year a new target was announced for the NHS to sequence one million genomes over the next 5 years. Will delivering genomic medicine in the NHS enable better outcomes for patients and contribute to a wealth of information to drive the treatments of the future?