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Doctoral defence of Hannah Rostalski, MSc, 16 June 2022: New knowledge on the pathological and functional changes in microglial cells in frontotemporal dementia

The doctoral dissertation in the field of Molecular Medicine will be examined at the Faculty of Health Sciences at Kuopio Campus. The public examination will be streamed online.

What is the topic of your doctoral research? Why is it important to study the topic?

In my doctoral dissertation, I have studied a neurodegenerative disease termed frontotemporal dementia. This disease can affect people who are still under the age of 65 years. I have investigated how a genetic mutation called C9orf72 repeat expansion, which causes frontotemporal dementia, affects brain immune cells, called microglia, and how people with this genetic defect can be identified more easily in the future.

What are the key findings or observations of your doctoral research?

As part of my studies, I have identified a new genetic marker that can help to detect this genetic alteration more easily in the future in large population-based data sets. Also, I have found that microglial cells of frontotemporal dementia patients carrying the C9orf72 repeat expansion as compared to non-carriers function differently and show a quite different gene expression profile. To our knowledge, our findings are new and similar findings have not been published so far by any other research group.

How can the results of your doctoral research be utilised in practice?

Finding people at risk who carry the C9orf72 repeat expansion from large population-based genetic databases, such as the FinnGen, might be easier in the future for research purposes using the new genetic marker. The information on the microglial cells from the patients can be used when considering the design of drugs for the treatment of frontotemporal dementia, or when researching biomarkers that would help to monitor disease progression and treatment effects in the patients. On top of that, the C9orf72 repeat expansion can also cause amyotrophic lateral sclerosis, another neurodegenerative disease affecting people under 65 years of age. Our findings on the microglia might also benefit the research related to amyotrophic lateral sclerosis.

What are the key research methods and materials used in your doctoral research?

I have used induced pluripotent stem cells from donors who were healthy or affected by frontotemporal dementia. Some of the diseased donors carried the C9orf72 repeat expansion, and some did not. The cells from the donors were differentiated into microglial cells and their cell pathological features, gene expression changes, and function were characterized by e.g. cell and biochemical and microscopy methods and RNA sequencing. For the project in which I have found the genetic marker to identify C9orf72 repeat expansion carriers in the future, I have used genetic and clinical data from different sources, such as the EADB (European DNA bank to decipher the Alzheimer’s disease missing heritability) and FinnGen databases.

The doctoral dissertation of Hannah Rostalski, Master of Science, entitled C9orf72 hexanucleotide repeat expansion in frontotemporal dementia – special focus on genetics and microglia, will be examined at the Faculty of Health Sciences. The Opponent in the public examination will be Associate Professor Marie-Ève Tremblay of the University of Victoria, Canada, and the Custos will be Research Director Annakaisa Haapasalo of the University of Eastern Finland. The public examination will be held in English.

Public examination online

Dissertation online

Photo available for download

For further information, please contact:

Hannah Rostalski, MSc, hannah.rostalski (a) uef.fi