Here is the latest positive update on the Smiles Study form UCH/GOSH;
Very excitingly the results of the whole genome sequencing has highlighted some really interesting candidate genes that we are looking into in more detail.
The two genes that we were most interested in (and had been published by another group) have not been flagged up as abnormal in our families. However, in science even negative results are useful results and this tells us that there are likely to be many different genes that could to be associated with lumbosacral lipoma (much like open spina bifida).
There are a number of other genes that have come up in our families that we are reviewing in detail to determine the likelihood that they may be involved in the formation of lumbosacral lipomas. Firstly we are looking at the type of changes in the DNA and then relating this to the structure of the proteins that are produced, we then have to predict whether the mutated product proteins are likely to function as normal – this includes comparing our data to a reference database of thousands of individuals. It is possible for an individual to have quite an altered DNA sequence but ultimately a functioning protein produced that doesn’t cause disease.
I wish to make sure that we are thorough in our review of the data as there is so much potential for errors to be made. I will be in touch again very soon once we have completed this process hopefully with some names of candidate genes and plans for future work.