The 100,000 Genomes Project, as the name suggests, is a plan to sequence 100,000 genomes from around 70,000 people. A genome, as I’m sure you know, is the complete DNA blueprint for any individual organism - it’s the information that makes you who you are… as opposed to a Jerusalem artichoke, or Peter Andre. If you’re anything like me, your understanding of genetics will be gleaned from the odd paragraph of a dog-eared Letts revision guide or the cartoon bit at the start of Jurassic Park. It’s the study of the way particular features or diseases are inherited through genes passed down from one generation to the next. But, like most things, it’s a lot more complex than that. Scientists are beginning to overturn the old idea that a single gene determines that you will be very tall or particularly good at table tennis. The sharpest minds in the world of genetic research now believe that groups of genes work together and are influenced by a huge variety of environmental and other factors - and the DNA that sits between the genes also plays an important role. Swindon’s own Great Western Hospital has joined forces with Oxford’s NHS Genomic Medicine Centre to take part in the project and is encouraging patients with rare diseases and their families to provide their genetic data. Dr Raman Sharma, a Consultant Paediatrician at the Great Western Hospital, said: “We’re delighted to be involved in this project which really is paving the way for personalised medicine. “Whole genome sequencing, which is an essential part of setting up a genomic medicine service, has only been available for the last few years. Thanks to these innovative methods, the NHS now has the opportunity to turn important scientific discoveries about DNA and the way it works, into smarter ways of looking at diseases, their causes and how to treat them.” Patients are encouraged to speak with their doctor to find out if they meet the eligibility criteria. For more information visit www.genomicsengland.co.uk
