Spilling your genes on rare disease (With SIR Mark Caulfield)

The UK 100,000 Genomes Project has focused on transforming genomic medicine in the National Health Service using whole genome sequencing in rare disease, cancer and infection. Whole genome sequencing is reading as much of entire genetic code as we can today. Genomics England partnering with the NHS to deliver this programme and then partnered the NHS to establish one of the world’s most advanced Genomic Medicine Services with 500,000 whole genomes available for NHS care over the next 5 years.

Our skin forms a vital barrier between our bodies and the environment around us and yet the details of how this barrier is maintained are still not completely understood. We can gain more insight into how the skin barrier works through the study of rare, inherited skin conditions. However, I will also explain how studying the skin is helping us to understand more about other organs inside our bodies, such as the oesophagus and heart.