My latest work:
Many serious diseases, affecting millions of people worldwide, have complex genetic causes. For example, two people could both have osteoporosis (a disease where bones become brittle and fragile), but due to two different reasons – one person might have a faulty gene that can no longer deposit minerals into the bone as efficiently, while the other person might have a mutation in a gene that leads to them having bone cells that die more easily and can’t replenish themselves fast enough.
This has the consequence that a drug that helps treat the first person by restoring bone mineral deposition will not be effective if given to the second person to treat their osteoporosis.
A second problem is that so far, we have only conclusively managed to pin down a handful of culprit genes – in fact, for most of the ‘common’ diseases (those that affect a large number of people), the majority of their genetic causes are still unknown.
The aim of my job is to try to find some of the missing pieces of this genetic puzzle. I try to find new ‘culprit genes’ that might be involved in certain diseases. New drugs can then be developed (or existing drugs repurposed) to repair the biological process that broke down because this gene was faulty. This means that we will be able to treat more people who have that disease, or even enable the first ever treatment for diseases for which no drugs currently exist.