Newcastle: Health Secretary Jeremy Hunt will be at
Newcastle University today to meet the first patients to be diagnosed
through the 100,000 Genomes Project. Led by the University and the Newcastle Hospitals NHS Foundation Trust,
the ground-breaking 100,000 Genomes Project involves 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.
Announcing the breakthough today at Newcastle University's Institute of Genetic Medicine, Jeremy Hunt will meet with the 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 breakthroughs that we are announcing today 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.”
They now have the opportunity to receive personalised treatment which will help prevent future generations from life-long disease.
Announcing the breakthough today at Newcastle University's Institute of Genetic Medicine, Jeremy Hunt will meet with the 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 breakthroughs that we are announcing today 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.”
published on: 11th March 2015