2025-08-16T22:20:00Z

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Imagine facing a life full of hospital visits and unbearable pain at just 19 years old, only to emerge stronger than ever. Remi Pereszczak's story is nothing short of miraculous!

Much of Remi's life had been overshadowed by chronic illnesses stemming from a rare genetic condition known as chronic granulomatous disease (CGD). This battle began long before he hit his teenage years, leaving him vulnerable to infections that seemed relentless, leading to hospitalizations and a cycle of antibiotics that felt never-ending. At one point, he even found himself in a critical state, isolated in a hospital, unable to eat solid food, and suffering from a collapsed lung due to a severe infection.

But this week, against all odds, Remi collected his A-level results and is now preparing to embark on a new adventure—studying law at the University of Winchester! Remarkably, he’s off all medications and able to eat whatever he desires. How did this incredible transformation happen? It all boils down to a groundbreaking treatment developed by a dedicated team at Great Ormond Street Hospital (GOSH) in London.

For the first time in the UK, GOSH’s scientists have pioneered a gene therapy that not only addresses Remi's specific condition but also marks a monumental step forward in genetic medicine. This innovative treatment allows the hospital to manufacture and deliver personalized therapies for children with rare genetic diseases under one roof, thanks to the establishment of seven new labs.

The hospital is on the brink of something revolutionary—seeking licensing from the medicines watchdog to manufacture and distribute gene therapies, much like a pharmaceutical company. This could pave the way for potentially life-saving treatments not just within the NHS but also globally.

Leading this groundbreaking trial is Professor Claire Booth, a powerhouse in gene therapy and a consultant in pediatric immunology at GOSH. She is not only hopeful for Remi’s future but also aims to extend this groundbreaking treatment to four additional children suffering from CGD, a condition with a prevalence of just one in a million.

Professor Booth declared the advancements at GOSH as “the foundation of the future.” She envisions a world where genome sequencing at birth could lead to immediate identification and treatment of genetic conditions, ushering in an era of personalized medicine tailored to each individual’s needs.

Although GOSH has been working on gene therapies for 25 years, this is the first instance where they’ve been entirely self-sufficient from conception to execution. This self-reliance not only accelerates the treatment process but also promises to address a wider range of rare diseases that significantly impact families and cost the NHS millions in care.

Remi's journey began in the northwest of England, where his parents initially had no idea his health struggles were linked to a genetic disorder. Trouble appeared early—he wouldn’t eat, often cried, and frequently experienced fevers. After countless visits to various medical facilities, he was finally diagnosed with CGD in 2007 at Alder Hey Children’s Hospital, leading to a referral to GOSH.

Fast forward to 2020, Remi's health took a drastic turn for the worse with a severe fungal lung infection that led to extreme weight loss and the onset of inflammatory bowel disease. By 2023, he was so unwell that he could only receive nutrition through an IV, confined to the hospital for extended periods.

Last year, however, Professor Booth and her team administered a revolutionary gene therapy to Remi. This procedure involved using samples from his own bone marrow stem cells combined with a modified HIV virus, which facilitated acceptance of new genetic code to rectify the defective genes. These reimplanted cells began producing healthy white blood cells within weeks, offering Remi a new lease on life.

Now, just over a year later, Remi has made significant strides. He now enjoys a life free of burdensome health concerns, expressing, “It has made a very, very big difference in my life. I can go out and about now without worrying, help my family out, and I’m excited to start university.”

Booth confirmed that within weeks of the therapy, Remi's body began generating functional immune cells, achieving about 40 percent healthy cells, enough to ensure stability and wellness.

The remarkable research and development that saved Remi’s life stem from the Zayed Centre for Research at GOSH, which opened its doors in 2020 after receiving a generous £60 million donation from the UAE royal family in 2014. In 2023, GOSH was granted a license to manufacture viral gene therapies, with six new therapies currently in development at the center.

Professor Booth emphasized that the advancements benefitting rare disease patients like Remi have broader implications for medical science, saying, “What we learn about rare diseases and developing treatment often has implications for more common conditions.” In fact, technologies pioneered in rare diseases have contributed to the development of CAR-T cell therapy, now a global standard for various blood cancers.