With the advent of cell and gene therapies that’s started to emerge—we see more and more about that on the media—is there any prospect for genetic disorders to be treated per se rather than treatments being focused on the ailments that result from the syndromes themselves?
There is some interest in whether certain classes of mutation might be amenable to treatments that might modify the expression of the abnormal gene, but I think we really are a long way from gene-based therapy in developmental disorders because the diagnosis isn’t made until many of the manifestations are present so I think in the short term we are looking at treatments that might be directed at manifestations of the condition. I spoke to a professor who was interested in gene therapy and he looked into Noonan’s and because it’s very heterogeneous and he’s not completely understanding what the proteins are doing so he’s not really sure what kind of gene therapies are doing and he’s also – if you look at NS it’s not really deadly – it’s not that severe so they’re first of all looking for gene therapies that are very deadly at a young age so probably it will be in the future but as I understand now at the moment it is not a focus of interest.
One possible exception is the Novartis Study which is looking at targeting in particular proteins within the pathway and I think it’s still very early days but it’s possible for these sorts of drugs might potentially halt the progression of the thickening of the muscle in the heart and potentially in some cases may even reverse it. There’s animal data on this and some anecdotal reports of these drugs being used in children with disorders of the RAS pathway so it’s possible there might be some progress – it’s not gene therapy as such but it’s gene guided therapy that might improve some of the features we see in the heart but I think we’re still some way from this being seen as a routine treatment.
Because this is a pathway which is so important in cancer – this pathway was first recognised in 1982 and there’s been tremendous work done on modifiers of this pathway but the difficulties when you realise changes in this gene causes developmental disorders is that the side effect profile of what you would accept with someone with cancer is completely different to the side effect profile of someone – a child – with developmental disorder. We’re still very much at the stage of understanding the inter-relationships of the pathway and there’s a lot to be learned about just how it functions in the cell normally but then of course you have on top of that, mutational genes but people are very positive about this group of disorders that there will be treatments and the work that’s going on is directed at that but it’s just that it’s going to take some time.
