The BRC caught up with Dr Natalia Dominik about her work to find new treatments for CMT.

What is your research background to date?

I joined UCL in 2019 to work in Professor Henry Houlden’s laboratory on an MRC-funded project in neuromuscular diseases, and in 2020, I began a part-time PhD in Neurogenetics – the study of genetics in neurological disorders.  I completed my PhD this year (2024).

My research has focused on the neurogenetics of ataxias (which cause balance and co-ordination problems) and neuropathies (which affect nerves). I have specifically been investigating the role of the gene ARHGAP19.

In my career to date, I’ve published papers as lead author, including a study on ARHGAP19 and its role in neuropathy, and I contributed to research describing CANVAS, a condition that affects balance and walking. I've also received several awards for my work, including the prestigious Richard and Mary Bunge Prize from the Peripheral Nerve Society.

What is the work you will do for your fellowship, and why is this work needed?

I will investigate potential treatments for a rare early-onset genetic condition called Charcot-Marie-Tooth Disease (CMT) – a broad group of disorders with over 100 genes identified to date and affecting an estimated 1 in 2,500-10,000 people. To do this, I’ll use tissue samples from patients, and I’ll use fruit flies (Drosophila melanogaster) as a model organism to study the disease and test possible therapies.

Although we’ve identified over 100 genes linked to CMT, there are still no effective drug treatments for most patients. My research will focus on one specific form of CMT caused by mutations in the ARHGAP19 gene. I’ll use fruit flies to screen drugs, which could lead to discovering new treatments. If successful, this method could also be applied to develop therapies for other forms of CMT.

I will do this work at the UCL Queen Square Institute of Neurology, in the departments of Neuromuscular Diseases and Clinical and Experimental Epilepsy.

How could your work benefit patients in future?

I hope that drug screening in Drosophila melanogaster will help to identify a potential treatment for ARHGAP19-related CMT and make a drug repurposing possible in this disease. Further, I hope that this approach could be used for other genetic causes of CMT which has potential to reach more patients in the future.

Finally, what are some of your interests outside of work?

Outside of work, I like to spend my time being active. I am a keen cyclist and enjoy riding to commute into work, as well as weekend cycling with a cycle club, and I’ve also taken part in events like Ride London. I enjoy travelling, both near and far, and for closer to home travel, I enjoy taking my soon to be four-year-old son to local parks and forests, where we appreciate nature and stomping in muddy puddles!

About the BRC Translational Neuroscience Fellowships

The BRC Translational Neuroscience (TN) theme awarded five early career researchers Intermediate Clinical and non-Clinical Fellowships to enable career progression. The fellowships were awarded following a competitive process, and will contribute to BRC TN objectives and support projects that align with them for an initial one-year period, with the possibility of extension for an additional year.

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