100,000 Genomes Project - Christine Mather

Christine is helping to transform diagnosis and treatment of rare diseases

Kidney patient Christine Mather has become the 2,000th person in Greater Manchester to take part in a project that is transforming the diagnosis and treatment of rare diseases.

It’s a major milestone for Salford Royal – where Christine is a patient – and colleagues at Central Manchester NHS Foundation Trust, which hosts the Greater Manchester NHS Genomic Medicine Centre.

The 100,000 Genomes Project is asking people with rare diseases and their families to give samples of their DNA to help scientists and doctors to try to discover the causes of their conditions. Your genome contains 3.2 billion ‘letters’ within your DNA which make up around 20,000 genes containing instructions for making and maintaining our bodies.

Salford Royal sees patients with a range of rare diseases, including rare kidney problems and Christine, aged 72, was asked to take part as she has polycystic kidney disease (also known as ADPKD).

And the former Medical Director’s PA from Sale was happy to give a blood sample as it may help others with the condition – particularly as it’s known to be an inherited condition.

She said: “I don’t want my daughter to have to go through the problems that I have. As soon as they find a cure it will be very good for future generations of my family as well as everybody who has it. This sort of project might change lives so if I can help, I’m happy to get involved in research.”

Christine is a patient at Dr Grahame Wood’s specialist ADPKD clinic at Salford Royal, and he said that  recent trials in which the clinic has been involved have given great hope that new treatments for ADPKD can slow or even reverse this usually progressive disease.

The 100,000 Genomes Project is looking for more people with inherited kidney diseases such as ADPKD, Alport’s syndrome and atypical haemolytic-uraemic syndrome (aHUS).

Kidney Consultant Professor Phil Kalra said: “We are really grateful to Christine and the other patients and their families who have agreed to help with the largest national DNA sequencing project of its kind in the world. Their samples could lead to discoveries that affect 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 specific and effective treatments.”

Professor Bill Newman, Consultant Clinical Geneticist and Director of the Greater Manchester NHS Genomic Medicine Centre, said: “The 100,000 Genomes Project is helping the NHS to provide the latest advances in diagnosis and treatment for its patients. We’re delighted that so many patients and their families in Greater Manchester are contributing to the future of healthcare. Our next big push is to recruit patients with cancer so that we can understand the best ways to treat different types of tumour too.”

The team at Salford is also about to start recruiting patients with other rare inherited conditions, including conditions that affect the nervous system, immune system and skin.

Eligible patients and their families will be asked to take part by their hospital doctor or nurse. Nationwide, the project will sequence (read the DNA of) 100,000 genomes by early in 2018.