Health Secretary Jeremy Hunt has visited Newcastle University to meet the first patients to be diagnosed through the 100,000 Genomes Project.

Involving the University and the Newcastle Hospitals NHS Foundation Trust, the ground-breaking 100,000 Genomes Project consists of collecting and decoding human genomes that will help scientists and doctors to understand rare disease and will lead to the design of personalised treatments. 

A pilot project at Newcastle analysed six genomes – the complete set of people's genes – and following years of tests and contact with NHS services, two families have been diagnosed for the first time with rare conditions.

They now have the opportunity to receive personalised treatment which will help prevent future generations from life-long disease.

Leslie Hedley, of Fenham, Newcastle, has had two kidney transplants and has taken part in the 100,000 Genomes Project. He lost his father and a brother to a rare genetic kidney condition and wanted to see if others in his family also had the disease. 

The 56-year-old's daughter, Terri, does have the rare genetic kidney condition, but his granddaughter Katie, 13, does not.  

Mr Hedley, pictured below with his daughter and grand-daughter, said: “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.

“Research has come on a long way, and it is important that we do our bit to help as much as we can.”       

Mother-of-one Terri Parker, 34, of Fenham, Newcastle,  added: “The 100,000 Genomes Project is hugely important in gaining as much insight into rare diseases as possible.

“I wanted to be part of the project for the benefit of my daughter, Katie, and it was such a relief when we found out that she did not have the same rare kidney disease as myself and other family members.

“I am glad that I’ve been part of the scheme and that I was given the opportunity to contribute, as it is a step towards finding out more about rare diseases and developing personalised treatments.”

Announcing the breakthrough today at Newcastle University's Institute of Genetic Medicine, Jeremy Hunt met with two families as well as the scientists and doctors involved in this pioneering work.

Project lead Professor Patrick Chinnery, Director of the Institute of Genetic Medicine at Newcastle University and an Honorary Consultant Neurologist at Newcastle Hospitals NHS Foundation Trust, said: “In the last few years there have been enormous advances in our understanding of the causes of rare diseases.

“The Institute of Genetic Medicine at Newcastle University has played a key role in these research advances for a number of different rare diseases, placing the people of the North East at the heart of this ground-breaking research.

“Patients of Newcastle Hospitals are the first to receive a diagnosis through whole genome sequencing by Genomics England, leading to changes in the treatment the NHS can offer their families."

Jeremy Hunt said 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.

He said: “The breakthroughs that we are announcing shows the UK and the NHS leading the world in genomic research, and will help ensure that people in our country will get the most advanced treatments, all underpinned by a strong economy.

“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.

“We want the NHS and UK to be the best place in the world to design and discover 21st century medicines, which are boosting the economy and creating jobs across the country. That’s why our investment in the 100,000 Genomes Project is so important.”

Photo (L-R) Professor Patrick Chinnery, Leslie Hedley, Terri Parker and Health Secretary Jeremy Hunt.   

published on: 11 March 2015