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Speeding up the time it takes for scientific findings to make a real difference to patients is a key focus for the Cambridge-based professor of paediatrics who, with Action funding, hopes to offer a brighter future for children with a rare and devastating disease.
What is Pelizaeus-Merzbacher disease?
PMD is an inherited condition that affects a child’s brain and spinal cord. It is one of a group of rare, progressive diseases known as leukodystrophies, and it usually affects boys. Although extremely rare, PMD can be devastating. Children demonstrate symptoms from birth and are unable to sit up, crawl, talk or walk. Sadly, with no cure, children with the most severe form are unlikely to live beyond the age of 15.
What inspired you to investigate this particular area?
I was the principal investigator of a clinical trial involving stem cell injections into the brain; the trial showed that this therapy was safe for boys with PMD. I wanted to do more to study the biology of this terrible disease and find alternative therapies. New treatments are desperately needed that can slow down or stop PMD from progressing because, at the moment, doctors can only prescribe medications to help alleviate a child’s symptoms, such as seizures and muscle spasticity.
What does Action funding for this study mean to you?
Action funding means we can investigate existing drugs, already used to treat other conditions, which we think could become a therapeutic option for patients with PMD. If our results are promising, the next step will be to test the most promising drug in a clinical trial involving patients with PMD. We also hope it could help children with other leukodystrophies.
What does a typical day look like for you … or is every day different?
As a Program Director and scientist, I have a varied schedule, which could include patient care, meeting with members of my laboratory team and also strategy and planning for larger programs. For example in paediatrics in Cambridge, we have started a new program to identify the genetic causes of diseases affecting babies in the Neonatal Intensive Care Unit (NICU). This could, in time, identify PMD patients who often are treated in the NICU.
Can you tell us a bit about your team?
My laboratory is international with members in California and the University of Cambridge in England. My lab comprises both PhD basic scientists and clinical scientists that have medical training. Therefore, my lab has a focus on translational insights that can be identified thorough basic science.
As a charity, Action began in 1952 with our founder’s quest to find a cure for polio. What led you to a career in medical research?
I’ve always been motivated by the potential of basic science to inform clinicians about disease mechanism and new routes to therapy. In my career I’ve attempted to speed up the time it takes for translation of basic science findings to patient impact.
Action’s loyal and lovable mascot Paddington Bear™ is very fond of marmalade sandwiches. What’s your favourite snack?
‘Trail mix’, as it is called in America.
Tell us something that will surprise us!
I am writing a fictional historical intrigue set in 15th Century England and France.
Find out more about Professor Rowitch's study here.