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The Molecular Consequences of a Genetic Mutation

Updated: Jun 1

We're delighted to welcome another of our past students, Dr Daniel McCartney, as our guest blogger for this post, and to find out what he has been doing since completing his PhD in 2016.


I completed my PhD at the University of Edinburgh in 2016, supported by a MHRUK scholarship. My project examined the molecular consequences of a genetic mutation (specifically, a chromosomal abnormality), linked to severe mental illness in a large family. The study involved a mix of laboratory-based techniques, working with biological samples from patients (“wet lab” work), and computational analysis of large datasets generated from these samples (“dry lab” work). While I was writing my thesis, I also had to consider a career after my studies. I knew I wanted to stay in research, but the question remained whether that should be in academia or the private sector.


After submitting my thesis in 2016, I joined an Edinburgh-based company where I was able to apply the “dry lab” skills I had learned. This involved analysing datasets for clients from a range of backgrounds, and provided valuable experience in working with different biological data types and disease subjects. I really enjoyed the varied projects, and worked with a great team. However, I did miss some aspects of academia such as the opportunities to publish research and collaborate with different groups.


In 2018, I returned to academia to take up a position as a postdoctoral research fellow in Alzheimer’s disease research at the University of Edinburgh and I’ve been here since! In this position I’ve been working with a large population-based cohort, Generation Scotland, to investigate genetic and environmental factors related to Alzhiemer’s disease and biological ageing, subjects which are becoming ever-more important with an aging population. In addition to my own research, I provide training to students in the group to develop their computational skills. Fortunately, as my research is all undertaken at a computer rather than a lab bench, it has not been too badly disrupted by the pandemic. Recently, I’ve taken a role with the Generation Scotland as a senior analyst, where I’ll be involved in the processing and analysis data of new datasets for which should serve as the basis of future studies for years to come.


Having experienced both academic and private-sector research, I’ve found each have their own advantages and disadvantages. The most important factors to me were research environment and job security.


In terms of the research, academia can be very much discovery-focused and in some cases may be further from real-world application than industrial research. Alternatively, many types of industrial research can have more of an immediate impact on patients’ lives through clinical trials and drug development, for example. However, in terms of exchanging knowledge and ideas, academic research is usually more open to collaboration with other groups, whereas it may be in the interests of some private companies to be more restrictive when it comes to sharing information.


Regarding long-term job prospects, it can sometimes be competitive to secure a long-term or permanent position as an early career researcher in academia. An added pressure to this is the concept of “publish or perish”, where a researcher is sometimes judged by the rate and impact of their output. On the other hand, there may be a greater number of permanent positions available in the private sector, and many of these can have greater scope for career progression.


A major advantage to doing a PhD is the transferable set of skills it provides, as this opens up a range of career options. While some members of my peer group have remained in research, others have gone on to work in sectors such as law, education, publishing, and the civil service (to name a few). I’m extremely grateful to MHRUK for supporting me during my PhD, as it’s allowed me to pursue a career I really enjoy. When I started my PhD I was one of two MHRUK scholars, and it’s fantastic to see how many more studentships have been awarded in recent years!


Daniel McCartney



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