Investigating the role of FUS in MND

Investigating the role of FUS in MND

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In June we hosted the second MND EnCouRage UK event for early career researchers (ECRs) which aims to support them to continue working in the field of MND. The event included lots of talks and workshops from senior researchers to provide tips and advice on moving forward in their careers and help them to develop new skills in areas like presenting their work to non-scientific audiences. We also challenged the ECRs to write a blog to explain their research to the MND community. This guest blog is from Sara Tacconelli, one of the ECRs who came to the event this year.

A photo of Sara speaking at a lecturn

My name is Sara Tacconelli and I grew up in a small town in Abruzzo, Italy, and I was raised in a nurturing environment, surrounded by love and affection from my family and friends. I always had a passion for science and as I grew older, a strong desire to dedicate my life to a meaningful cause emerged within me – a desire to somehow make a difference in the lives of others.

After high school, one of my father’s closest friends was diagnosed with MND, and this had a great impact on me. Not long after, I made the decision to embark on a journey to London for my undergraduate degree. Today, I am in the final year of my PhD in neuroscience at King’s College London.

I will share my story and the focal point of my research: a protein called Fused in Sarcoma (FUS) and its significance in understanding MND.

Witnessing the impact of MND on a family friend struck a chord deep within me, and it compelled me to take action. The determination to help people with this disease helped guide me on my career path and led to my decision to pursue a career in neuroscience.

The educational system in Italy has several differences to the UK, and even though I thought I had a good grasp of the language prior to moving here, it was not easy at first. I left my comfort zone and embraced the challenges of studying abroad, knowing that this was the first step on a path of contributing to the field of MND research.

My research is focused on a protein known as FUS, which has been linked to a subset of familial Motor Neuron Disease, sparking intrigue within the scientific community. Within the context of my studies, I am investigating the role of FUS at the synapse—an essential junction where information flows from one neuron to another. The synapse serves as a vital hub for communication between neurons, orchestrating the transmission of signals that underlie our thoughts, movements, and sensations. Understanding the intricate dance of proteins like FUS at the synapse is crucial in unravelling the complexities of MND. By deciphering the role of FUS in maintaining synaptic integrity and function, I aim to contribute to a deeper understanding of the disease, which may be used by other scientists to identify potential avenues for therapeutic intervention. In the simplest terms, imagine my research is the foundation on which a house can be built, brick by brick.

If you were to follow along for a day in my life, you may find me taking high resolution microscopic images of spinal cord tissue, maintaining human neurons reprogrammed from stem cells or performing a common technique that allows the staining of different proteins with different colours in order to see where they lie in the cell. Ultimately, all of this work will lead to uncovering new protein-protein interactions.

A series of images of neurons and FUS protein under the microscope

Within the vast landscape of MND research, the exploration of FUS and its connection to synaptic activity holds promise. With each experiment and discovery, I am motivated by the potential to contribute to the collective knowledge that may one day pave the way for effective treatments and improved quality of life for those affected by MND. It is this hope that motivates me, even in the face of challenges and uncertainties.

We would like to thank Sara for taking the time to write this guest blog about her work and also thank everyone involved in making MND EnCouRage UK 2023 such a success. Sara’s PhD project is funded by the MND Association. Thank you to the West Sussex South and West Sussex North MND Association Branches for supporting Sara’s research.

The MND Association’s vision is a world free from MND. Realising this vision means investing more in research, further developing partnerships with the research community, funding bodies and industry, while ensuring that advances in understanding and treating MND are communicated as quickly and effectively as possible. Our Research Development team, composed of 11 members, work hard to achieve this. Principally, the Research Information team within this are involved in communication activities including this MND Research blog.