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Gene-ius Genetics

by YPU Blog on February 21, 2020, Comments. Tags: biology medicine health, biosciences, BMH, Genetics, PhD, and Research

Introduction

Hello! My name is Katie Sadler, and I’m a second year PhD student in Genetics. A few years ago I wouldn’t have guessed I’d be doing a PhD, but when I got restless as a graduate I decided I needed a new challenge. My research focusses on using genetic variants to identify people at higher risk of developing a type of brain tumour, called a vestibular schwannoma (explained later!). In the future this should mean that patients receive treatment sooner and hopefully help find new drug therapies.

Graduation Day! I'm in the middle.

In Depth…

How I got here:

During high school I loved art and textiles, and took Music Technology as one of my subjects in college. I also loved my science classes... even maths! I found it really interesting when science topics overlapped. Like using maths to figure out a chemistry equation, which related to the function of a biological process so, I ended up taking Maths, Chemistry and Biology at A level. I found it challenging!

I started my Genetics degree at the University of Manchester in 2012. I had always found the topics of evolution and inheritance fascinating, and during my degree I got especially interested in human genetic disease. I went on to do a one year Master’s degree in Genomic Medicine, again at the University of Manchester in 2015.

Then I got a job as a Genetic Technologist in a hospital laboratory, a job I couldn’t have got without my degree. I thought the job was great, regularly using the knowledge and skills I’d gained at university to do laboratory work and analysis, ultimately helping to provide answers for patients. After two years in the job I wanted to further my knowledge and applied for a 3 year PhD course with the University of Manchester.

My research:

The focus of my research project is finding new genetic associations with tumours called vestibular schwannomas (a vestibular what?!). Vestibular - because these tumours grow on the vestibular nerve, one of the major nerves in the brain that is responsible for hearing and balance. Schwannoma – because these tumours develop from Schwann cells, a type of cell that surround nerves.

Vestibular schwannoma tumours often cause hearing loss and balance problems, as well as other serious complications. Surgery to remove these tumours is an option, but it can also cause hearing loss. Finding these tumours earlier and figuring out who is at a higher risk of developing them would improve treatment outcomes for patients and their families.

By identifying genetic variants that increase the risk of developing these tumours, we would be able to risk profile patients and their relatives. Giving us a better idea of how likely a tumour is going to develop, if other types of tumour might appear and if the tumour might be fast growing. Doctors can then use these risk profiles to decide how often patients should come in for check-ups and MRI scans, helping to find tumours earlier. Improving our understanding of the genetic variants that cause these tumours could also help identify new drug treatments.

I enjoy doing my PhD project as it’s pulling together different skills I have and is challenging me to gain new ones, like coding and project management - the kind of skills I can highlight to future employers!

MRI scan showing a vestibular schwannoma tumour before and after surgery.

Going Further…

If you’re interested in genetic medicine and want to find out more there are some great FREE online courses available on FutureLearn. You can do as much or as little of these as you want, it’s a great way of getting a deeper understanding - https://www.futurelearn.com/courses/whole-genome-sequencing & https://www.futurelearn.com/courses/the-genomics-era

If you’re interested in studying genetics at university, here’s a link to the University of Manchester course page, there are other universities too! - https://www.manchester.ac.uk/study/undergraduate/courses/2020/00571/bsc-genetics/

Not necessarily genetics related, but here’s a link to a BBC radio 4 podcast ‘More or less: Behind the statistics’. They cover some very interesting current news topics and scientific articles, digging deeper into the methods and numbers behind the claims. I think they’re funny and great examples of critical analysis, a skill that will come up again and again at university! - https://www.bbc.co.uk/programmes/p02nrss1/episodes/downloads

If you have a Netflix account there is a great series of mini documentaries called Explained. Episode 2 of season 1 is ‘Designer DNA’, where you get a quick overview of genetics and DNA editing. Here’s a link to the series - https://www.netflix.com/gb/title/80216752