Genome Sequencing

Having my entire genome sequenced to try to see what might be causing my form of MND


I am extremely excited to have been invited to join The 100,000 Genomes project. This research will sequence my entire genome in an effort to uncover whether my genetic code holds any clues as to why I am showing unusual symptoms for what is already a rare disease.

In case this doesn’t mean very much to you, let me give a short History Lesson. In April 2003, one of the most significant scientific breakthroughs of modern times was announced. After years of painstaking research carried out by thousands of dedicated scientists across the world, the complete genetic code of a human being – their genome – could now be published.

The Human Genome Project, as this work was known, was the largest international collaboration ever undertaken in biology with British scientists leading the global race to read the human genome, which is made of DNA, letter by letter, a technique called sequencing.

Now there is a real opportunity to turn the very important scientific discoveries about DNA and the way it works into a potentially life-saving reality for NHS patients across the UK.

The project will sequence 100,000 genomes from around 70,000 people.

The aim is to create a new genomic medicine service for the NHS – transforming the way people are cared for. Patients may be offered a diagnosis where there wasn’t one before. In time, there is the potential of new and more effective treatments.

The project will also enable new medical research. Combining genomic sequence data with medical records is a ground-breaking resource. Researchers will study how best to use genomics in healthcare and how best to interpret the data to help patients. The causes, diagnosis and treatment of disease will also be investigated. This is currently the largest national sequencing project of its kind in the world.

This is serious Science. I love it!