Questions about genetics and research

There is a gene called NRAS and we know now that that is the most common cause of CMN of any size and any number. Overall, in one big cohort it causes 67% of cases. In medicine, numbers are always a little bit inaccurate could be a bit less than that could a bit more than that.

A gene called BRAF has also been found as being a cause for 7% CMN, much less common than the NRAS mutation but it is definitely a cause.

In other cases, 25% of cases researchers have described single cases who have had different cause. In each of those cases so far only one person had that cause, so we don’t know whether there’s going to be many other possible causes.

This answer has been taken from a Q&A zoom session with Professor Veronica Kinsler, recorded in April 2020.
Please note this is an accurate answer at the time of recording. However, due to the continuing advancement in CMN research, it is important to seek current guidance and advice from a medical professional or by contacting Caring Matters Now. You can watch the full recorded session here.

This is not at all true. Because it’s the most common, it is easier for us to get skin from people with an NRAS mutation, so we work a lot on that particular gene, but it is not the only one that’s being worked on, either by us or by other people.

In fact, anything that gets found about how to treat CMN should be possible to use with some adaptation on the other genes.

This answer has been taken from a Q&A zoom session with Professor Veronica Kinsler, recorded in April 2020.
Please note this is an accurate answer at the time of recording. However, due to the continuing advancement in CMN research, it is important to seek current guidance and advice from a medical professional or by contacting Caring Matters Now. You can watch the full recorded session here.

Mosaic disorders are a group of rare disorders which are collectively not so rare. They are defined as a group by a common disease mechanism – they are caused by a genetic mutation (change) in a single cell in the developing baby during pregnancy. This leads to the baby being born with a mixture of normal cells (not carrying the mutation) and disease cells (carrying the mutation). It is this mixture which is referred to as mosaicism. This event can happen to any child, and importantly is not inherited from either parent.

The effects of the mutation depend on lots of different things. The most important ones are when it occurs and whereabouts it occurs in the body. In general, the earlier the mutation happens, the more serious the disease will be. As a result of the variability, each child with a mosaic disorder is unique in their disease and needs to be assessed uniquely. Mosaic disorders affecting the skin are currently the best known because it is possible to see the effects on the skin as birthmarks. As a result, although they often affect many body systems as well as the skin, mosaic disorders affecting the skin are looked after by Paediatric Dermatologists and Dermatologists. This Rare Disease Collaborative Network (RDCN) focuses on the severe end of the spectrum of these diseases.

In our lab we are using as many different approaches as we can. The reason for this is that this is a tough problem, so we need to really do this properly, scientifically and come at it from every single angle we can.

Secondly, we know that some of the problems are going to be difficult in finding a treatment for CMN, but there will be ways that we simply have not imagined yet. Our approach is to really attack it from all different angles in terms of genetic treatments and drug treatments. The same applies for other teams that are trying to look at this as well, people are trying to use everything that might be available now. It may be that we find treatments which are effective but are not safe, that’s a real possibility. We also might find treatments which are safe but don’t work very well, so we are having to try different approaches at the moment to find something that works and is safe.

This answer has been taken from a Q&A zoom session with Professor Veronica Kinsler, recorded in April 2020.
Please note this is an accurate answer at the time of recording. However, due to the continuing advancement in CMN research, it is important to seek current guidance and advice from a medical professional or by contacting Caring Matters Now. You can watch the full recorded session here.