THE first patient has been recruited to Warwick Hospital’s pioneering 100,000 Genomes Project.
Susan Villis has given her complete genetic code, known as a genome, which will be sequenced, giving scientists a better understanding of how rare diseases and cancer work.
It will be compared with family members and other people with similar symptoms, and could lead to improved diagnosis and treatment.
“I was referred to Coventry Hospital by my dermatologist, who suspected a genetic link with medical issues I was having,” Susan said.
“He thought I could have Gorlin Syndrome and felt the 100,000 project was a great way of potentially giving me a proper diagnosis. The more data we can give them to help them improve diagnosis and treatment, the better.”
Gorlin Syndrome is a condition that increases the risk of developing cancerous and non-cancerous tumours.
The 100,000 Genomes Project is the first of its type, globally, and is open to patients with eligible rare diseases, as well as those with certain cancers.
Warwick Hospital is one of 17 in the West Midlands Genomic Medicine Centre, one of 13 GMCs across England.