A 17-year-old from Cannock has finally been given a genetic diagnosis for his rare disease, thanks to the pioneering 100,000 Genomes Project.
James ‘Jim’ Wright has had weakness in his legs for 15 years, with doctors suspecting he had charcot marie tooth (CMT), a rare disease that affects peripheral nerves.
Earlier genetic testing had been inconclusive, but by analysing James’ whole genome (his complete genetic code), scientists discovered a fault in the MORC2 gene, a recently recognised sub-type of CMT.
As there are over 50 types of CMT, not all are discovered on preliminary genetic testing.
CMT is a progressive condition, caused by a fault in one of the many genes responsible for peripheral nerves, meaning the nerves become damaged over time, makes everyday tasks increasingly difficult.
The 100,000 Genomes Project aims to analyse and sequence the 3 billion letters that make up an individual’s genome, giving scientists a better understanding of how some rare diseases and cancers work.
James has been seen by Dr Jenny Morton, Consultant Clinical Geneticist at Birmingham Women’s Hospital (BWH) since 2005.
Dr Morton said: “One of the key purposes of the 100,000 Genomes Project was to potentially provide genetic diagnoses for some people with rare diseases.
“I’m really pleased for Jim and his family, especially as this diagnosis will help them draw on the experiences of others with rare forms of CMT.”
James’ parents, Karen and Kevin, said: “This result is great news for us.
“We now not only have a genetic diagnosis for Jim, but also know the chances of any children he or his brother have in the future being affected by CMT.”
James said: “It’s really exciting to have a diagnosis.
“Hopefully it’ll help other families in the future.”
BWH, part of Birmingham Women’s and Children’s NHS Foundation Trust, is one of 17 hospitals that form the West Midlands Genomic Medicine Centre (WMGMC).
The aim of the project is to collect and sequence 100,000 whole genomes, from patients with rare diseases and their families as well as cancer patients, leading to increased understanding of the causes of disease as well as better diagnosis and treatment.