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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


 

Fats, blood and DNA! Is there a link?

by YPU Admin on February 17, 2017, Comments. Tags: Blood, BMH, DNA, Fats, Genetics, PhD, and Research

Introduction

Hi, my name is Kathryn McGurk and I am a cardiovascular genetics researcher – I study DNA changes that lead to heart attacks and strokes. My PhD is with the Division of Cardiovascular Sciences here at UoM, funded by the Medical Research Council.



How I got here

At secondary school I loved Biology and Chemistry, and after working as a medical receptionist, I knew I wanted to be in healthcare. I studied Natural Sciences for my undergraduate degree at Trinity College Dublin, Ireland – a general sciences course which allows you to specialise in the last two years in a science of your choice. I joined thinking I would become a chemist, but fell in love with DNA studies and therefore specialised in genetics. My final year project was trying to find out what animal an unknown 8,000 year old piece of bone can from, using DNA analyses (it was a sheep!). After this project and work experience reading DNA for a breast cancer testing kit, I knew I wanted to do a PhD in genetics and aid in cures for disease.

In Depth

For my Ph.D., I use mass spectrometry to measure fats in blood. A mass spectrometer is a machine that can measure substances at really low concentration in blood. These fats are not like cholesterol, as they can kill cells, change the size of blood vessels, and cause pain. I am trying to find out if the levels of these fats in families with high blood pressure are passed down from parents to children through DNA. I will also find if their concentrations in blood are linked to DNA – if they are increased or decreased with changes in DNA. Changes in DNA change proteins which are formed from DNA. If a DNA change makes a protein which cannot produce a fat anymore, the fat might be at low levels in the blood of people with this DNA change, which could be good or bad for heart attack and stroke risk. I hope that by identifying fats which are important in cardiovascular disease genetics, they can be used to make new tests and treatments for heart attacks and strokes.

A typical month for me involves extracting fats from blood samples in the lab and running these on the mass spectrometer. I then go through the data the mass spectrometer produces and work out the concentrations of each fat in each family member. After some important data checks, I can use computer software to see if these fats are passed down through families and if DNA has a role in their levels in blood. I love how many different activities my work involves; lab work, mass spectrometry, and computer programming. Alongside research there is a lot of fun activities that I can get involved in – I am a student representative to help students with any troubles they have and I am a widening participation fellow, so I get the opportunity to teach A-levels students research skills and produce science workshops for students thinking about university. A PhD allows a lot of travel; I trained twice in Cambridge last year and I was given the opportunity to travel to Cape Town, South Africa this year to meet students there and learn more about genetics. With this Ph.D. I can stay in a university setting in the hopes of setting up my own lab someday, become a teacher, or work with industrial labs to help drugs being developed.

Going Further

Read: An obvious choice, but a great scientific read: http://www.nature.com/

Search: The Google of medical research: www.pubmed.com

Watch: David Attenborough’s Planet Earth II: https://www.youtube.com/watch?v=c8aFcHFu8QM

Study: http://www.manchester.ac.uk/study/undergraduate/courses/2017/00585/bsc-life-sciences/

More: Women in Science Blog: https://womenareboring.wordpress.com/