Ask the scientist: Dr Theresa Strong

Question from our community:

When my child was diagnosed more than 20 years ago we had genetic counseling with a gentleman who suggested that in 20 years we would have gained enough knowledge to manage all Prader-Willi symptoms. How far off are we?

Response from Dr Theresa Strong:

I've been in science long enough to know that predicting when effective treatments will be available is generally not a good idea. Some scientific problems that seem easy to address turn out to be much more difficult than anticipated, while new scientific breakthroughs can make the impossible suddenly possible. One thing that has become apparent about Prader-Willi syndrome over the last 20 years is that it is extremely complicated - the genetics are unusual with imprinted genes and "noncoding RNAs" in play, the systems that control appetite have proved far more complex than first thought, and the mental health issues associated with Prader-Willi syndrome are similarly complicated. So despite important advances in the field, the dream of successfully managing all Prader-Willi symptoms has not yet been realised.

That said, there are many reasons to be hopeful. There are a variety of new drugs currently in development for control of appetite in PWS (see and  most of this progress has occurred in the last three years. There have also been recent advances in technologies to manipulate DNA which have led to the possibility of gene-based strategies to treat Prader-Willi syndrome at the molecular level. Conventional drugs and devices are being developed and tested to alleviate some of the more troubling aspects of Prader-Willi syndrome including hypotonia, hyperphagia, and behavioral problems (see a working list of therapeutics in development here ). While none of these approaches can be guaranteed to change the lives of those with Prader-Willi syndrome, the sheer number of potential new therapies and intensity of investigation is exciting and promising. We still have a way to go before it will become a manageable disorder, but research has brought us a wealth of new opportunities and hope for the days ahead.

The Prader-Willi Research Foundation of Australia funds research that will help improve the clinical outcomes and treatments available to people living with Prader-Willi syndrome. You can help make a difference by donating or spreading the word.