Seven-year-old pioneer Nile could help unlock secret of human genetics

Posted on 6 June 2016 (Permalink)

A seven year old Wolverhampton boy is the first in the city to take part in a ground-breaking NHS project which aims to unlock the secrets of human genetics to transform future treatments and care.

Nile Thackery Lunn, who lives in Bilston, has a number of complex health issues which doctors have been unable to diagnose. Now his family hopes a detailed analysis of Nile’s entire genetic make-up will reveal a diagnosis, helping him and potentially millions of other people in the future.

As part of the 100,000 Genomes Project, Nile’s entire genome will be sequenced and compared with his parents’ DNA and the results of other people who may have similar symptoms. It may throw a lifeline to his mum Kelly Thackery, who has become frustrated over a lack of diagnosis of symptoms she believes show a degree of autism and ADHD.

Kelly said: “Nile is quite delayed in his development. He doesn’t like change and can become aggressive. Sometimes he just has a meltdown.

“People just see a naughty child, and without any answers on his condition it’s difficult to explain to people why he behaves how he does. If we had a diagnosis then people could listen and try to understand. We’ve felt helpless but now we have had the genome testing we are hoping for some answers.”

The 100,000 Genomes Project aims to help people with rare diseases and some cancers.

Teams across a range of disciplines at The Royal Wolverhampton NHS Trust have adopted new patient assessments and ways of working to make sure they can play their part and identify patients who will benefit.

Charlotte Hitchcock, one of three regional Genomics Ambassadors from the West Midlands Genomic Medicine Centre - funded by WMAHSN - said the unprecedented analysis of genomes in people like Nile would look at “every single page” of the human “instruction book”. The data gathered could be compared with his parents’ genetic make-up and other data in an attempt to provide a diagnosis which leads to treatment.

She said: “The whole point is to create the way that healthcare is provided in the future. The project will take a large number of samples to link whole lifetimes of medical records with a person’s genome data. The richness of this data can help to understand disease and to tease apart the complex relationship between our genes, what happens to us in our lives and illness.

“As well as possibly benefitting individuals who take part, the 100,000 Genomes Project will alter the whole NHS perspective, and will pave the way for personalised medicine, predicting how well a person will respond to a treatment or finding one that will work best for them.

“The 100,000 Genomes Project is a massive opportunity for healthcare to be shaped for the future and for the NHS and clinical researchers to work together to enhance medical care and practice and involve patients and their relatives. This project will potentially provide much-needed answers for those who have previously not known the exact cause of their own or their child’s disease.”