2,000th patient in 100,000 Genomes Project has ADPKD

ADPKD patient Christine Mather has become the 2,000th person in Greater Manchester to take part in the 100,000 Genomes Project, which is transforming the diagnosis and treatment of rare diseases.

Christine is a patient at Salford Royal and gladly gave a blood sample for testing at Central Manchester NHS Foundation Trust, which hosts the Greater Manchester NHS Genomic Medicine Centre. 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's consultant at Salford Royal is Dr Grahame Wood, who runs a specialist ADPKD clinic and has hosted two ADPKD Information & Support Days organised by the PKD Charity. 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.

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.”

(Postscript: The 100,000 Genomes team reached its target of 100,000 genomes of rare disease and cancer patients in December 2018)