Jeans for Genes

The secrets we keep – how delving into our DNA is unlocking a new era of medicine.

Bubble baby. It sounds like an endearing term or maybe even a game we might play on our smartphones, but for Marie Evans it describes a parent’s worst nightmare.

Her son Rhys was born on 30 September 2000 and was seemingly a healthy, happy little boy. But only a few months later he was in and out of hospital with chest infections and other complications and his condition deteriorated until he was critically ill with pneumonia and had to be placed on a ventilator.

It wasn’t until he was nine months old that Rhys was diagnosed with a serious immune system disorder called Severe Combined Immunodeficiency (SCID), more commonly known as ‘bubble baby’ syndrome. It was so life-threatening even the common cold could have killed him, and he was admitted to a sterile room at Great Ormond Street Hospital.

It’s here that things changed. A new idea, a revolutionary approach on how to treat little Rhys.

Doctors knew his condition was caused by a single genetic alteration, or mutation, of a gene in his DNA and the only available treatment was a bone marrow transplant that was an incredibly difficult procedure.

Just a few floors away from Rhys’ room, a team led by Doctors Bobby Gaspar and Adrian Thrasher, were making a breakthrough that would change Rhys’ life, and the medical profession in the UK, forever – gene therapy.

The medical team took bone marrow from Rhys, implanted a synthetic gene into it and returned it back to him via an intravenous drip. Rhys had to stay in sterile conditions until doctors could tell if the procedure had worked. A CT scan showed that his thymus gland was growing, and blood tests indicated he was starting to make his own antibodies. By October he was well enough to go home.

Despite having to stay in the house and a few panicked trips to Great Ormond Street, he got better and now he is thriving. Fast forward some 18 years and Rhys is currently on a gap year after finishing school and hoping for a career in IT. He had no idea about his place in history or being the first child in Britain to have pioneering gene therapy while he was growing up.

Rhys’ story of being ill and not knowing the cause is one families up and down the country can relate to. Some 3.5 million people in the UK are living with one of the 6,000 rare diseases we currently know about and it can feel like a never-ending cycle of testing with no diagnosis or treatment.

Some 80 per cent of rare diseases have a genetic cause and the NHS can currently only test for about half of these conditions. This means the key to diagnosing these remaining unknown conditions and finding answers lies in delving into our DNA.

This is exactly what the NHS Genomic Medicine Service (GMS) is doing by harnessing the power of genomics, the study of genes in our DNA and their function, and using this to revolutionise mainstream medicine.

Imagine being able to get a faster diagnosis of a condition based on your unique DNA code, be given personalised treatments based on what would be most effective for you and experience fewer, if any, side effects. Or even move away from simply managing an illness once you are sick to promoting health by predicting certain conditions and preventing them developing in the first place.

This may sound like a plot from a science fiction series on Netflix, but it is already happening in clinics across the country. From finding a diagnosis for critically ill babies and making diabetes sufferers insulin-free to restoring a patient’s sight and saving newborns from going deaf, the NHS is the first healthcare system in the world offering such an ambitious vision.

By exploring our DNA and finding the connections between certain diseases and our genes, like Rhys’, we can provide answers, guidance and even treatments for patients and their families who have been searching for help for so long.

Sadly, not everyone will have an outcome like Rhys and there are thousands of people across the country still looking for answers and help.

This is the motivation behind the Jeans for Genes campaign – to help raise money for Genetic Disorders UK (GDUK), the charity that aims to change the world for families affected by genetic disorders. The annual campaign funds projects to help people like Marie and Rhys get the vital support they need.

Being the ‘bubble baby’ has not defined Rhys’ life, he is thriving despite his condition. This is the reality that all those suffering from a genetic disorder want and through the power of genomic medicine and the hard work of groups like GDUK, we’ll get there together.

Sue Hill

Professor Dame Sue Hill DBE FMedSci FRSB FRCP(Hon) FRCPath (Hon) FHCS (Hon) is the Chief Scientific Officer (CSO) for England and a respiratory scientist by background.

Throughout her career she has led on large-scale priority programmes across government and in NHS England including as the senior responsible officer for Genomics in the NHS, introducing a world-leading and nationwide Genomic Medicine Service, building on her work in heading up the NHS contribution to the 100,000 Genomes Project.

She has also played a pivotal role in the national COVID-19 programme leading the development and deployment of testing technologies into use for the UK population and co-directing the whole-genome sequencing of SARS-CoV-2 programme.

Genetic Counsellor working with families for the charity Genetic Disorders UK.