Janine Kirby is a Non-Clinical Reader in Neurogenetics and is celebrating 20 years in motor neurone disease (MND) research this month. Here she tells us more about how she got into the field, her current projects, what it’s like to work at Sheffield Institute for Translational Neuroscience (SITraN) and to meet families affected by MND.
How and why did you get into MND research?
Having completed my PhD at University College London, I wanted to apply my knowledge of genetics to medical research. I subsequently joined the MND Research Group at the University of Newcastle-upon-Tyne, headed by Prof Pamela Shaw, looking at the frequency of genetic changes in the SOD1 gene in MND patients from the North East of England.
Since then, firstly at Newcastle and then at the University of Sheffield, I have provided genetic input to the research strategy of investigating the molecular basis of this complex genetic disorder. I am now a Reader in Neurogenetics at SITraN working not only on the genetics of MND but also using a method termed transcriptomics (basically which genes are being switched on or off, and by how much) to discover biomarkers for the disease and to understand why the motor neurones are dying.
20 years later I’m still here because it’s incredibly challenging and interesting research, with the opportunity to work with great colleagues and collaborators across the world.
What is it like working in SITraN?
It’s fantastic. I started off with a small square of lab bench in Newcastle and now have my own office in a state of the art research institute! SITraN has allowed there to be a much better interaction between the scientists, clinicians and nursing staff, by having us all under one roof.
What are your research interests?
My research interests are the genetics of MND and how transcriptomics (measuring gene expression levels) can be used to investigate the biological pathways of why motor neurones are dying in MND and to identify diagnostic and prognostic biomarkers (‘fingerprints’ of the disease).
My research focuses on obtaining gene expression data from experimental models of the disease and from patient and control samples.
Individuals with known genetic variants linked to MND are generally indistinguishable from sporadic patients in the clinical setting, so the disease is thought to progress along common pathways which result in the death of the motor neurones. Therefore, by understanding the biological mechanisms in the genetic variants linked to the disease, it is hoped that the results will be widely applicable to other cases where the cause is currently unknown.
Can you describe the research project you are currently working on?
I am currently supervising several post-docs and students. Some of their projects involve screening our MND patient DNA samples for mutations (changes in the DNA sequence) which may cause the disease (we are currently screening TBK1). Other are analysing gene expression (which genes are switched on or off) in patient blood samples over the course of the disease or those found specifically in MND CSF (cerebro-spinal fluid) samples compared to healthy control individuals.
What do you enjoy most about your job as a researcher?
Several things really, including getting a good result, getting your paper published, getting your grant funded and seeing the students you have supervised graduate and embark on their own scientific careers.
What’s been the highlight of your career so far?
My personal highlight would be securing a permanent job as a lecturer at the University of Sheffield, which allows me to continue doing the research I enjoy, in addition to writing grants to organisations for funding new research ideas, writing up results for publication in scientific journals and supervising students.
I was also part of the team involved in setting up the MSc Translational Neuroscience course, a one year course for students who want to specialise in Neuroscience, and so train the next generation of research scientists.
What other activities are you involved with through your role at SITraN?
I really enjoy taking part in the annual open day at SITraN – last year involved extracting DNA from strawberries using everyday items including washing up liquid, plastic bags and even coffee filters! It is always great to see people’s faces when the DNA strands come out of solution at the end. I also have a Twitter account (@J9Kirby) aimed at sharing the research and my role with other members of the MND community and I have now met many followers in person.
One of the essential roles of the researcher is to also share your results with colleagues and other researchers in the field. While this usually involves publishing your data, there are also opportunities to present at European and International meetings, including the ALS/MND International Symposium. My first meeting was in Glasgow in 1997 and there were no more than a few hundred participants – there are now just under a thousand participants at the International Symposium meetings – so the research environment has certainly expanded in the last 20 years.
Who do you admire the most?
Our patients and their families for their endless support of the work we do and for participating in our research.
What do you like doing in your spare time?
I enjoy travelling, scuba diving, photography and genealogy – well, what did you expect from a geneticist! I am also a trustee of the Sheffield Hackspace, a communal workshop and skills exchange for people who make things.
Did not understand too much about this but please here’s to another 20 years. Linda Endicott
Most interesting but I see no mention of progress towards a cure or treatment for MND however slight! A ray of hope would be so welcome! My wife has MND and we participate in everything feasible for us. Our son Andrew Hammond is running the London Marathon on behalf of MND and we are getting a lot of support.
Thanks for your letter (blog)
Thank you for your comment David. In the 20 years since Janine began working in MND genetic research, scientists have discovered many new genes linked (in part) to MND developing. Studying the genes and their function will help work out how this results in damage to nerve cells. Importantly it helps us build a picture of which parts of the cell /cell workings to target in order to stop this damage happening. This means potential treatments can be specifically directed to certain parts of the nerve cells, which may make them more effective in slowing MND progression. It all helps us put together pieces of the MND puzzle, and efforts to find a cure and treatments for MND.
If you have any questions please get in touch at email@example.com.
Best wishes to Andrew for the London Marathon.
MND Association Research team
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