Salford Royal is helping to change how NHS patients are treated and cared for by taking part in the pioneering 100,000 Genomes Project.
Patients with rare diseases and their families, as well as patients with cancer, will be invited to take part by giving samples of their DNA. Salford Royal will be approaching patients who have rare kidney problems and also patients with brain tumours. “These are areas of clinical expertise in Salford and so we decided to start with these patient groups,” said Professor Bill Newman, lead of the 100,000 Genomes Project in Manchester.
Your genome represents the instructions for making and maintaining you. It contains 3.2 billion ‘letters’ within your DNA which make up around 20,000 genes. Many conditions have at least some genetic basis and differences in the patterns of a particular disease in individuals might also have a genetic basis. Learning more about genomes can help us to identify the cause of genetic diseases.
In cancer, the tumour cells have usually developed a different genome to the healthy cells. Comparing the normal and cancer genomes may give clues about ways to treat the cancer.
Professor Phil Kalra will be leading the kidney part of the project at Salford Royal, which will focus on people with inherited kidney diseases such as polycystic kidney disease (ADPKD), Alport’s syndrome and atypical haemolytic-uraemic syndrome (aHUS). ADPKD is an inherited condition in which cysts develop in the kidneys, eventually leading to kidney failure. The rarer Alport’s and aHUS are genetic disorders which also damage the kidneys.
Eligible patients and their families will be asked to take part by their hospital doctor or nurse.
Professor Kalra said: “We are proud to be part of the largest national DNA sequencing project of its kind in the world. The generosity of our patients and their families in giving samples could have far-reaching results in the lives of many people.
“We hope that by improving our understanding of these conditions and why they have different effects in different people, the 100,000 Genomes Project will be the first step towards offering patients new and more effective treatments.”
Nationwide, the project will sequence (read the DNA of) 100,000 genomes from around 70,000 people by early in 2018.