Profile

I graduated from the University of Bath with a Batchelor’s degree in Biochemistry, which included a placement year at a lab at Cardiff University, researching how to improve the medicine for a rare genetic disease that causes a form of childhood Alzheimer’s. This let me learn lots of lab skills and got me interested in neuroscience and thinking about future research careers in this area.

I then went back home to south Wales to complete my Master of Research degree in Stem Cell Neurobiology at Cardiff University, where I researched Huntington’s disease and how genetics plays a role in what age people are when they start having symptoms of the disease – and how this could help people at risk of getting ill with the disease stay healthy for longer.  I even got to publish some of my work, which was super exciting! (Read it here if you’re interested: one in the Journal of Huntington’s Disease and one in a journal called Nature Neuroscience).

At the moment, I am a PhD student at the University of Southampton working with the University of Portsmouth EXRC (frog research centre) to understand a rare genetic disease that causes the brain to not develop properly, using frogs as a model organism.

The disease I research is called PURA syndrome. The PURA gene is very important for helping the brain form correctly when a baby is developing in the womb – PURA syndrome happens when this gene stops working properly.  You might not have heard of PURA syndrome – only around 700 people in the whole world have the disease. This means there aren’t many patients to help us understand what is going on in the disease, and how we can help.

Believe it or not, we have a lot in common with frogs! The instructions to make a frog, their genome, is written in a similar way to humans, and they can make decisions and remember things too. This means we can use frogs as a model organism to help better understand disorders that effect the brain, like PURA syndrome. The way we do this is by making the same changes to the genetic instructions that cause PURA syndrome in patients, in the eggs of frogs. Then, we can measure the effect these changes have on the brain power of the tadpoles by watching how they act in a simple maze – do they remember where they’ve been, or do they keep repeating the areas they visit?

I am also working on new ways to better recreate changes to the genetic instructions, so we can make frogs as close and as accurate to patients as possible – this means what we learn from the frogs should be more accurate too!  This is important because by collecting this information, we can help doctors and families know how to best look after and care for patients with this disease.

I get to the lab just before 10am (if luck and Great Western Railway are on my side). I feed and clean the tadpoles and get some experiments set up and running before having a quick bite to eat for lunch and a catch up with my lovely lab friends.

The afternoon is a busy time: that’s when the frogs in the frog centre lay their eggs. We collect them so we can use a technology called CRISPR (tiny molecular scissors with the power to chop and change the genetic instructions that are found inside every living cell) to make changes to the genetic instructions inside the eggs, which will grow into tadpoles that still have these changes. This allows us to make the special tadpoles in our frog centre which we study to help us learn about different human diseases.