26 March 2018

A pensioner from Wellington is having his genetic code mapped to help launch a scientific revolution in the fight against a rare disease that limits your ability to walk.

Michael Bradley has suspected Hereditary Spastic Paraplegia (HSP) and on Friday 23 March he became The Shrewsbury and Telford Hospital NHS Trust’s (SaTH) 100th patient to take part in the 100,000 Genomes Project.

From left, James Jones (Research Nurse at SaTH), Michael Bradley and Keri Bramford-Hale (from the Centre for Rare Diseases and Personalised Medicine at Birmingham University).

It is estimated that HSP – a rare generative disorder that causes weakness and stiffness in the leg muscles – affects about three in every 100,000 people.

Research Scientists from SaTH, which runs the Royal Shrewsbury Hospital and Telford’s Princess Royal Hospital, are working with The West Midlands Genomic Medicine Centre as part of NHS England’s pioneering 100,000 Genomes Project.

The project is expected to improve the prediction and prevention of cancer and rare conditions, enable new diagnostic tests and allow treatments to be personalised.

Michael, 68, said: “By taking part in this exciting project I hope I can help future generations of people.

“I have no expectations of a cure being found for me but confirmation of my diagnosis would be most welcome.

“Going forward this new found knowledge should be able to help future generations be diagnosed quicker, be treated better and more efficiently.”

The father-of-seven will have to wait between 12 and 18 months for his results while his blood samples are sent off for the DNA to be extracted and all the genomes – the information in our DNA – are sequenced.

Helen Moore, Clinical Trials Manager at SaTH, said: “We are inviting people who have a rare disease or a condition for which a cause or explanation has not yet been found, to take part in the 100,000 Genomes Project.

“We have now had 100 patients and their relatives taking part and hopefully through this project we will begin to understand why some people get ill and others don’t. We also hope to be able to provide a diagnostic for some patients with rare diseases and develop a genomic medicine service for the NHS that will support researchers to develop medicines, therapies and diagnostic tests.”

Helen added: “A person’s genome is all the genetic information in the body’s instruction manual. Some of a person’s genome is linked to that person but a lot is shared among relatives, and therefore learning more about genomes can identify the cause of genetic diseases and may help to improve treatments.

“The aim is to create a new genomic medicine service for the NHS, improving our understanding of diseases and their causes and transform the way patients are treated by moving to more targeted, personalised therapies.”

Nigel Capps, Consultant Chemical Pathologist and Director or Research and Innovation at SaTH, said: “We are delighted to be part of the ground-breaking project, a revolution that will put the NHS at the forefront of healthcare science.

“This is an important step forward for patients in our area and across the West Midlands region as genomics is key to the future of medicine and will hopefully act as the catalyst for the transformation of care throughout the NHS.”

The 100,000 Genomes Project is open to cancer patients and people with rare disease in an attempt to targeted treatments.