Smiles Study update August 2018

Here is the latest update from The Institute of Children’s Health and Great Ormond Street:

We have collected samples from our two families with lipomas and the DNA sequencing should be complete next week. We will then have 20,000 genes to review to see if we can find the gene (or genes) that might be causing lipomas. We are going to start by looking at those genes we think are most likely to be responsible but if that doesn’t reveal anything we will keep going through all 20,000!

The biomarker work is also going well. We have improved our lipid detection tests and are able to measure a large number of specific phospholipids in spinal fluid, blood and urine. We are currently fine tuning our detection method to make these measurements even more accurate and plan to run another larger set of samples at the end of September.

Interestingly our second lipid screen indicated that some lipids are raised in children who have less problems with their lipoma. This suggests that some lipids might actually be protective which was a really surprising finding. We are therefore planning on looking at this second group of lipids in more detail and this might reveal some interesting insight into how lipomas cause nerve damage and even potentially how that nerve damage might be prevented. 

Once again many thanks for your ongoing support.

Best wishes

Victoria