A perfect accolade of research focus | Action Medical Research

A perfect accolade of research focus

7 August 2012

As Professor Bobby Gaspar’s medical career enters its third decade, he looks back on the highlights. A source of well-founded pride is his involvement in the development of gene therapy for babies born with faults in their genes putting them at severe risk from infections. And he extends his thanks to Action Medical Research for its early support of his career via their prestigious Research Training Fellowships.

“As a young man if I could've imagined my perfect career, then the one I have is exactly it!” says Bobby Gaspar, Professor of Paediatrics and Immunology at the Molecular Immunology Unit at the UCL Institute of Child Health, London. What more a perfect accolade of one man’s professional focus and ambition could there be?

He is privileged to be working at the forefront of research and treatment of primary immunodeficiencies, where inherited genetic mutations (faults in their genes) mean that babies are unable to fight off infections. Bobby is also grateful for the early support of his career by children's charity Action Medical Research. In 1993 he was awarded a prestigious Research Training Fellowship by the charity.

“I received three year Research Training Fellowship funding which allowed me to complete my PhD. This was my academic foundation, it set me on the road to my academic and clinical career,” explains Bobby.

Action Medical Research is celebrating 60 years of vital research for babies and children in 2012. The UK charity’s Research Training Fellowships (RTF) scheme aims to support the development of the research leaders of the future, to help the charity work towards their aim to stop the suffering of babies and children caused by disease and disability. The RTFs have been awarded to promising doctors and scientists for 39 years of its history.

Medicine a “default setting”
One of five siblings, Bobby came from a medical family – his mother a GP and his father a psychiatrist. He remembers his mother telling him and his brothers and sisters that their choice of career was entirely their own, just so long as one of them went into medicine! The Gaspar children clearly took heed – four of the five went on to work successfully in the field.

Warm, engaging and clearly passionate about his work Bobby goes on to describe his childhood interest in science and medicine. “My parents clearly enjoyed science and medicine and so did I, it was the environment in which I was raised, so it was almost a default setting for me.”

“When I was in the 6th form at school I was fascinated by Darwin’s Origin of Species and Crick and Watson’s discovery of DNA. This was my first taste of the world of genetics. On the back of that I also developed an interest in treating childhood genetic diseases.”

Inevitably, he became a medical student, making the choice to train as a physician rather than a surgeon. “I was always drawn to more in depth science and research,” he says.

In 1990, Bobby embarked on his two year stint as a Senior House Officer in Paediatrics, as was the form in those days. He spent one year in Brighton at the Royal Alexandra Hospital, followed by one year at King's College Hospital, London

Developing gene therapy
In 1992, he went to work in the Infectious Diseases and Immunology department at Great Ormond Street Hospital (GOSH), London. “This was originally meant to be only for six months,” explains Bobby. “I was lucky enough to work under the inspiring leadership of Professor Gareth Morgan and the late Professor Roland Levinsky who performed the first bone marrow transplants at GOSH in 1979.” Professor Levinsky was also awarded a Research Training Fellowship by Action Medical Research in 1975.

Back in the early 1990s conventional treatment of primary immunodeficiencies was by bone marrow transplant, “but there are problems if the donor match is poor and we often lost children,” explains Bobby.

In 1993, for the first time in the UK, a girl with severe combined immunodeficiency (SCID) was treated with gene therapy at GOSH. Without treatment, babies with the disease normally die within the first year of life. A boy with SCID survived for 12 years in a plastic, germ-free bubble, which is why the condition has been referred to as “bubble boy” disease by the press and public.

“This was a very exciting time in the field of gene therapy and at such an early stage of my career,” says Bobby. “What I really enjoyed was the dynamic interaction of working in the laboratory and then seeing at first hand the impact of this work on the ward.”

Professors Morgan and Levinsky were looking for a clinical fellow to look after the work from the trials they were undertaking in gene therapy. “I was young and fired up by the work and I was obviously keen to be involved,” says Bobby. Levinsky, a unique character Bobby remembers, told him in no uncertain terms that after six months he would need to find his own funding to continue the laboratory work.

Learning the laboratory skills
“Every researcher needs time to complete a PhD and learn the necessary laboratory skills. The Research Training Fellowship awarded to me by Action Medical Research was crucial to my continuing studies and to this advancement in laboratory science, which ultimately informed groundbreaking advances in treatment.”

“It was very exiting academically, and as a researcher to be working with genetic material as a cure for these extremely sick children. It also helped the Institute of Child Health gain international regard and acclaim in this area, but ultimately the prize was in seeing these children get well.”

In 2003 Bobby and his team went on to treat with gene therapy a young boy born with SCID. The boy is now 11 years old. “I saw him in clinic only recently. He is well, in school, and leading a completely normal life. It's incredibly rewarding to see how he's come on – from such a sick and vulnerable baby with no immune protection to the child I now see who is living such a full life.”

Around 20 children have now been treated with gene therapy by the team at ICH and around the world – five primary immunodeficiencies and three genetic metabolic diseases have received the therapy.

There have been some side-effects but multicentre trials, involving strong European and US collaborative links, are now beginning to develop safer technologies. ‘Next generation’ vectors (carriers for introducing new genes) are being developed to reduce the risk of leukaemia.

“I wanted to be able to develop a treatment that was as effective as a bone marrow transplant but safer,” says Bobby. “And I hope that this will become standard practice within the next five years.”

Privileged position
Reflecting on his successes and good fortune, Bobby concludes: “My two older daughters are now 15 and 13 and we talk about what they want to do in the future. I tell them both that they should do what they enjoy and what makes them happy. Who knows, they may get the medicine bug. I just hope they'll be as lucky as me – to have the career they always imagined, with research and training supported by schemes like the Research Training Fellowships that Action Medical Research award. And, of course, to be in the privileged position of being able to help some very sick children.”

Help us spread the word