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First Findings

Three men have been the first to have a rare disease diagnosed through the UK 100,000 Genomes Project, the Press Association reports. The men, from two different families, were recruited from the Newcastle area.

One man, Leslie Hedley, has suffered from lifelong kidney issues, which have necessitated two transplants. These problems have also affected his father, uncle, and brother, and now his daughter has begun to show signs of the condition.

"I was keen to take part in the project as I felt it was important to try and find out as much as possible about my condition for my daughter and granddaughter," Hedley tells the Press Association.

The other two men are brothers who have Charcot-Marie-Tooth, which the project traced to a particular genetic mutation, and they are now part of a treatment trial.