Newcastle University’s genome sequencing project may offer hope to millions of people as it has diagnosed rare conditions for the first time.

The University made the medical breakthrough as part of the 100,000 genomes project (More Reading) testing the DNA profiles of two North East families to become the first to be diagnosed with rare conditions.

In keeping with the original aims of the project this means that the patients involved can now receive personalised treatment for their conditions, alongside helping to prevent future generations suffering who have the same genetic condition.

DNA Testing for the benefit of future generations

The families had their complete full genetic code analysed by medical staff in an attempt to understand the health issues they were experiencing.

One of the patients was 57-year-old Leslie Hedley, he has had two kidney transplants and lost his father and brother to a rare genetic kidney disease. He 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.”
He added: “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.”

His 34-year-old daughter, Terri Parker said: “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.”

Another family effected by a rare condition taking part in the project are brothers Allan and William Carpenter. Allan is 69 and William is 79 and both have been diagnosed with inherited nerve damage, known as peripheral neuropathy. This is the first time this specific genetic mutation has been identified. The brothers will undergo a treatment trial which could prevent family members from developing the same condition.

Grandfather of five William said: “There is not a particular cure for my illness. However, I wanted to be part of the 100,000 Genomes Project as it will help future generations in the long-term. It is great that the research schemes such as this are being undertaken as it will enable experts to further understand rare diseases better.”

100,000 Genomes Project Makes UK No1 for DNA sequencing

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 explained how the institute has made some major steps in the 100,000 Genomes Project’s journey playing “a key role in these research advances for a number of different rare diseases.”

Discoveries of these diagnosed families coincide with the government’s push to make the UK the number one place in the world for DNA sequencing for medical care. He added: “Patients of Newcastle Hospitals are the first to receive a diagnosis through whole genome sequencing by Genomic England, leading to changes in the treatment the NHS can off their families.”

The Secretary of State for Health, Jeremy Hunt, furthered the point saying: “[This] shows the UK and the NHS leading the world in genomic research… 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 added: “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.”