PhD student Jasmine wins prize at showcase for early career researchers

MRC PhD student Jasmine Donaldson has won a prize for best PG talk at the 11^th Annual Mammalian Genes Disease and Development Meeting.

The annual event is an opportunity for early career researchers from Bath, Bristol, Cardiff and Exeter to showcase groundbreaking research relating to mammalian systems.

A number of researchers took part in the day of talks covering gene expression, neural stem cell regulation, and embryonic development.

Jasmine's research focuses on the genetic factors that are responsible for the onset of Huntington's disease.

She explained, "The mutation responsible for HD is a small sequence of DNA in the huntingtin gene on chromosome 4 in which several base pairs (CAG) are repeated many times. Generally, the more times that the ‘CAG’ sequence is repeated, the earlier an individual will develop the disease.

"Despite this relationship, however, other factors seem to influence the age at which an individual develops the disease. Two individuals may have the Huntington’s Disease mutation and have exactly the same number of CAG repeats but one individual may develop the disease at 55 years of age while the other individual may develop the disease at 25 years of age.

"What I am interested in is looking at what genetic factors are responsible for this onset difference between individuals. If we can identify the factors that promote HD onset then therapies can be developed to try and slow down or prevent HD."

Her prize-winning talk was split into two parts. Firstly she discussed how she used genetic engineering to correct the HD mutation in a cell line derived from a patient with HD.

Jasmine explained, "The aim of this is to create two cell lines which are genetically identical except one is healthy and one has the disease mutation, which can be used as a control for future experiments.

"The cells from a patient with HD exhibit a Huntington’s disease-like phenotype and so it will be really interesting to see whether this phenotype is reversed now that we have corrected the mutation.

Next, she described how she planned to introduce mutations into DNA repair genes that have been linked to changing the size of the disease mutation.

She said, "We see from animal models that certain DNA repair genes can increase the size of the mutation and we think that this leads to an individual developing the disease earlier than expected. I want to identify the genes that promote HD onset and understand the mechanism by which they do this as this will highlight potential therapeutic targets."

Going forward Jasmine’s research will be addressing the following questions:

• Does correcting the HD mutation in cells reverse the disease phenotype they exhibit?
• Do genetic variants in DNA repair genes change the severity of the disease mutation?
• Do these genetic variants affect the age at which an individual develops HD?

She concluded, “It was my first time speaking at such an event so I was incredibly nervous. I never thought for a moment that I would be taking home a prize!

“I was really pleased to be asked lots of questions after my talk. I love what I do and it was incredibly rewarding that the audience was really interested in what I’d shared with them.”