Tiny Science: Genes and Cells

Obesity is now referred to as a "global epidemic", with cases on the rise across the UK, Europe and the US, which we associate with the Western lifestyle. However, obesity is now also increasingly seen in developing countries moving away from poverty. Whilst there are very rare cases of obesity involving a mutation in a single gene, which has little to do with lifestyle factors, commonly obesity involves an interplay of both environmental factors, and genetic susceptibility, of which there is no single "obesity gene".

It is commonly reported that a high BMI is linked with acid reflux (a common cause of heartburn and indigestion) because people with higher BMI are more likely to have reflux. However, this kind of approach doesn't really tell us whether BMI actually causes reflux. BMI could be the wrong measure of obesity for this. In my research, I use a technique called Mendelian Randomisation, which uses the 'fat genes' described in Amy's talk to study whether BMI (and other things) actually cause reflux. Our results tell us that it's not how heavy you are, but where you distribute your fat, which is impor

Almost every cell in your body can build a tiny radio antenna called a "cilium". When mutations in your DNA cause these cilia to be broken, babies are born with too many fingers/toes, blindness and deafness, cleft palate, and their organs in the wrong places. My research investigates how cells actually build these cilia, and how this goes wrong in ciliopathy patients.