Profile

I work with over 350 families all with children with genetic syndromes. I work to try and work out the different characteristics of these families, the patterns of their characteristics and the changes in these over time. Our study does this in relation to psychiatric disease and mental well-being. Genetic syndromes can come and all shapes and sizes – the ones I work with are called ‘copy number variants.’ What this means is that there is an area of DNA which is either missing, duplicated or changed. It is like a lego brick tower. If you take a brick away from the tower, it gets shorter and sometimes it will fall over or collapse – it makes it unstable. If you add a brick to the tower, this makes the tower bigger, and this also can cause it to sometime topple over or be unstable. Making changes to the lego tower, like when changes are made to DNA, can cause the individual to have some differences, physically and mentally.

My day can comprise of many different tasks. Some days I can spend hours on my computer, analysing statistics, trying to work out how the sleep problems of families we work with relate to their mental health problems. I then attended lots of meetings to discuss my findings, and I can sometimes do some talks. Other days, I actually go out all over the UK to collect this data. I visit families in their homes and ask them questions about their children with genetic syndromes. I get to play games and do puzzles with the children too as well as ask them some questions. I have a nice cuppa with the families and get to see them in their home environment. Some days I go to Bristol to help them with one of their sleep studies exploring sleep in schizophrenia.