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Three British men have become the first people to be diagnosed with rare diseases thanks to genome sequencing through the 100,000 Genomes Project.

Newcastle University and Hospitals worked together with Genomic England to analyse the men's genomes as part of the project's pilot scheme, Health Minister Jeremy Hunt has announced. "The families that are receiving a first diagnosis have been given a fresh start, opening the door for new treatments for future generations with rare diseases," said Hunt.


The men are benefiting from ground breaking developments in whole genome sequencing, which will now allow them to receive effective, personalised treatment. Their diagnoses should also prevent future generations who share their DNA from living with uncertainty, should they exhibit similar symptoms.

One of the patients, 57-year old Leslie Hedley has a lifelong history of high blood pressure and protein in his urine, which has led to kidney failure. Hedley's brother, father and uncle have all died of the same condition. His daughter, who was showing early signs of kidney damage has now also been diagnosed with the condition, whereas his granddaughter has received the all-clear from doctors. "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. Now that my daughter, Terri, has been given a diagnosis it means that her condition can be monitored every year to see if there are any changes," said Hedley.

The other two patients to receive diagnoses through the 100,000 Genomes Project are brothers Allan and William Carpenter, who are aged 69 and 79 respectively. A genetic mutation that has been identified as part of the project for the first time ever has resulted in a diagnosis of inherited nerve damage, or peripheral neuropathy, for the pair. They are now set to join a treatment trial that could prevent family members suffering the same symptoms of muscle loss and weakness.

The 100,000 Genome Project will run across three years, gathering data that should improve the diagnosis and targeted treatment of genetic disease. Professor Mark Caulfield, chief scientist at Genomics England, said the project was "delighted" to be delivering its first results, and promised that more diagnoses will follow "over the coming months".