Interpreting Reports About Research

Often when we see a program on TV about a breakthrough in medical research it seems like the disease will be cured in a matter of months or, at the most, a year or so. But, more often than not, this is a false impression.

Medical scientists and doctors know that most discoveries will lead to a ‘cure’ or improvement in treatment only step by step. For example, researchers need to initially work out which abnormality in a gene may be causing the problem. The next step might be to work out how to fix or bypass that gene abnormality. Other researchers are often working on exactly how the disease is caused and how the body reacts to it. This might give other clues as to how a disease might be treated. . While stem cells do hold some promise there is no effective treatment for Neuromuscular disorders using stem cells.

Scientists generally think in terms of years, or even decades to make significant improvements for an individual living with a disease.

When you are reviewing the research that is taking place it is important to remember these things if you are trying to work out how it might be able to help you.

At the same time, it is very important to maintain hope and some exciting work is certainly being done as Prof North discusses below.

Prof Kathryn North, Douglas Burrows Professor of Paediatrics & Child Health, Head of the Institute of Neuroscience and Muscle Research,  Children’s Hospital, Westmead, and world-renown expert in childhood neuromuscular conditions has provided the following insight into where she sees the treatment of childhood onset neuromuscular conditions in about 10 years from now.

“The first thing is that by excellent and prospective medical and allied health care we are able to keep our patients in the best possible condition so that they can participate very fully in their lives. We do this by knowing the natural history (or natural progression) of each condition – this allows us to look forward and predict where there may be problems and treating those problems early or preventing them. This is prolonging life and really improving quality of life for patients.

What is really exciting right now is that we are identifying the genetic basis of so many of the childhood neuromuscular conditions and for some of these, such as Duchenne muscular dystrophy (DMD), we are now developing and delivering targeted therapies that are very specific to the gene and to the genetic condition.

We are currently doing gene-based therapy trials for DMD and what I predict, for example, for that disorder, over the next 10 years is that we will have a range of treatments for DMD, some of which will be very specific to the mutation, some of which will be targeted to trying to reverse that degenerative process in the muscle to improve muscle strength and performance to slow down the progression of the disease and eventually, hopefully, cure it.”