Case study

New genome sequencing technique: first 2 diagnoses

As part of the 100,000 Genomes Project pilot, the Centre for Life in Newcastle has made its first diagnoses.

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Leslie Hedley, 57

Mr Hedley has a life-long history of high blood pressure and protein in his urine, causing kidney failure. His first kidney transplant failed and he has received a second transplant. His father, brother and uncle all died of the same condition and his daughter Terri Parker has early signs of kidney damage. There was a concern that her daughter Katie could also be affected.

Whole genome sequencing revealed Mr Hedley’s kidney failure was caused by a particular genetic variant. His family is also being tested and their blood pressure can now be effectively controlled by drugs available on the NHS.

Two brothers, Allan and William Carpenter, aged 69 and 79

The brothers had muscle loss and weakness and have been diagnosed with inherited nerve damage, known as peripheral neuropathy – this is the first time this particular genetic mutation has been identified. The brothers are due to join a treatment trial which, if successful, could prevent family members developing the same condition.

Published 11 March 2015