Professor Austen Worth (GOSH) - Q&A for LetterOne

What do you do at Great Ormond Street Hospital?

I am a consultant paediatric immunologist at Great Ormond Street Hospital (GOSH). I look after children who are born with genetic defects which mean that their immune system doesn’t function properly. I look after children with different severities of immune disorders. At one end of the spectrum children can be treated with antibiotics and at the more extreme end of the scale it could be a child with no immune system at all, where a common cold can lead to them being treated in intensive care. For the majority of these children, we have developed treatments that are successful.

There are big treatments, like a bone marrow transplant (BMT) or pioneering new treatments such as gene therapy where GOSH is a world leader. We’ve made amazing advances, but for a small number of children these techniques don’t work. Thanks to the generous donation from LetterOne we are now looking to develop treatments for children with these rarer diseases of the immune system.

You have worked at Great Ormond Street Hospital for 13 years now, what is so special about the hospital?

Great Ormond Street Hospital is very special, and I feel very lucky to be working at a place that is synonymous with excellence in paediatric care. At GOSH we have one of the broadest ranges of dedicated, children’s healthcare specialists under one roof in the UK. It’s a privilege to arrive every day knowing what a difference we can all make to the 619 children who come to GOSH every day. As part of a children’s research hospital it’s also very inspiring to be able to work with my colleagues on pioneering research and treatments that give hope to children who have the rarest, most complex and often life-threatening conditions, not just from across the UK but also from abroad.

As part of this work, I have the opportunity to work alongside research colleagues at UCL Great Ormond Street Institute of Child Health (ICH) and internationally. Together our scientists and leading clinicians are able to pioneer new treatments and cures using the very latest technologies and science.

Why is it so important for LetterOne to support rare diseases through GOSH Children’s Charity?

For many seriously ill children, research is their only hope and yet paediatric research is severely underfunded, receiving only five per cent of public and charitable research funding in the UK each year. GOSH Children’s Charity wants to partner with supporters to help bring about an improvement in survival rates and quality of life for children with rare and complex conditions and tailored treatments for patients with rare diseases.

Why is the funding from LetterOne important to the research you are undertaking?

The vast majority of patients that are seen at GOSH, 75% in fact, have a rare disease. The generous donation from LetterOne will be helping children born with a rare disease that affects about 1 in every 500,000 births – complete DiGeorge (cGDS) syndrome.

Children with cGDS are born without a functioning thymus gland, a tissue that surrounds the heart, and is responsible for producing cells (T-cells) that help fight infections in the body. Without treatment, children with cDGS are likely to die before the age of 2.

The donation from LetterOne will enable our team to continue work begun by GOSH Professors Graham Davies and Adrian Thrasher, which showed that transplanting tissue from a donor thymus helped give a functioning immune system back to 75% of patients with cDGS.

GOSH is one of only two centres across the world offering thymus transplant for cDGS.

This new funding will support the LetterOne GOSH Charity Research Group in Thymus Transplantation and will enable our research team to look at how to maximise the number of immune cells produced after thymus tissue is transplanted into children with cDGS.

The new research will investigate how the technique can be enhanced to reduce some of the complications that can occur in some patients.
A longer term aim is to refine this treatment further so it might eventually be used to treat children with other immune system disorders.

CASE STUDY

Aidan from Oldbury took part in the original trial by Professor Graham Davies and Adrian Thrasher. His mum, Megan, says:

“Aiden was diagnosed with Complete DiGeorge Syndrome when he was one. We were devastated when we heard the news. We’d never head of the condition and suddenly we were being told he had virtually no immune system and probably wouldn’t live past three years old.

“For the next year he was confined to hospital and hooked up to a ventilator 24-hours a day. His future looked bleak.

“It was at this time that we were told about a thymus transplant trial at Great Ormond Street Hospital and knew it was our only hope. The procedure was relatively straightforward and within a year his health had dramatically improved.

“Now seven years old, Aiden is at school and loves playing tennis, reading Roald Dahl books and playing with his brother, Olly, 6, and sister, Evie, 2.
“He’s living a life we didn’t think he would have. Without the trial, we wouldn’t have Aiden. It’s changed our lives and saved his.”

With the funding from LetterOne this treatment could potentially be used for other children requiring treatment for cDGS like Aiden.