My job title is simply ‘Scientist’!
The most exciting thing that's happened this year in my research area:
The UK government has become increasingly more receptive to introducing the routine use of genetic data in primary healthcare. This will improve our ability to screen for certain diseases, and allow us to identify people at high risk of these diseases earlier.
For example, two people who eat the same foods and exercise the same amount could still have a markedly different probability of developing heart disease by a given age, because of genetic differences between them. By analysing their genetic data, doctors might notice that one person has the same genetic risk of heart disease at age 40 as the other does at age 55, and start the first person on statins (cholesterol-lowering medication) sooner because of this.
This ‘prevention first’ model in the healthcare system could help identify people at high risk of serious disease, earlier, reduce healthcare costs, and allow people to live healthier lives for longer.
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.
My favourite misconception about my area of science:
I have several!
- That genetically modified organisms (GMOs) are universally bad for you. This is very untrue. Humans have been genetically modifying (selectively breeding) plants and animals for thousands of years! Have a look at this infographic to see what some plants used to look like before humans domesticated them! Genetic modifications can help plants become hardier and thrive in harsher climates, they can make them look/taste better/have better yield/remove unpleasant features (think of seedless grapes), and they help reduce the use of pesticides by making plants or animals naturally resistant so some pathogens. Often, genetically modified organisms do not have any new genetic material added to them, and the process of genetic modification just lets us get the same plant we could have gotten through selective breeding – but much faster.
- That you have ‘genes for’ something. For example, I sometimes see a news article discussing how scientists have discovered the ‘gene for’ a given disease, or a characteristic, e.g. the ‘gene for obesity’ or the ‘gene for red hair’. This is a very subtle but a very powerful misconception that is wrong for two different reasons:
- Humans all have the same genes. Where they can differ is in which mutations they have within certain genes. For example, everyone has the CFTR gene, which encodes an ion channel (a ‘gatekeeper’ that helps transport chloride in and out of cells). However, some people have a mutation in this gene that stops it from working properly, and can lead to a serious disease called cystic fibrosis (CF). They don’t have the ‘gene for’ CF, they have a specific mutation within this gene that leads to the disease.
- As I explained in the section above, most diseases are complex and the same symptoms can be due to several different underlying biological reasons. There are some ‘monogenic’ diseases, where everyone with that diseases shares the underlying genetic cause, but these are the exception rather than the rule. As such, there is no one ‘gene for obesity’ or ‘gene for heart disease’, and most often, a genetic mutation’s effect on a disease is not a simple ‘on/off switch’ – that is, a mutation in a given gene might have been linked to a disease, but not all people with that mutation will necessarily go on to develop that disease. This is because the interplay between our genes, our environment, and random chance, is incredibly complex!