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Doctoral defence of Juha Mehtonen, MSc, 8 Dec 2023: Computational methods shed light on changes in gene expression in childhood leukemia

The doctoral dissertation in the field of Molecular Medicine will be examined at the Faculty of Health Sciences at Kuopio campus.

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

The dissertation focuses on hematological cancers, especially childhood leukemia, from a computational analysis perspective. The central part of the study involves the analysis of gene expression data and the associated key challenges. On average, 10% of all diagnosed cancers are hematological cancers, and particularly in children, leukemia is the most common diagnosed cancer. Although overall life expectancies have improved in recent decades due to advanced treatments, there is significant variation in prognosis, recurrence risk, and gene expression profiles among subtypes of cancers. Therefore, it is important to deepen our understanding of these variations to develop more advanced and effective drugs and treatment methods.

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

We gathered together a dataset known as Hemap, consisting of nearly ten thousand gene expression samples, which allowed us to compare the profiles of different subtypes of hematological cancers and identify potentially meaningful differences in gene expression. Additionally, we delved into a subtype of childhood leukemia characterizing the ETV6-RUNX1 fusion gene at single-cell level and observed aberrant expression of transcription factors in the leukemic cells that normally influence the development of normal B cells.

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

The results have indicated genes that are differentially expressed in hematological cancers and its subtypes, which could serve as potential targets for new targeted therapies.

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

The work extensively and comprehensively utilized existing gene expression profiles available in public data archives. Simultaneously, methods were developed to reliably compare gene expression jointly across multiple different datasets.

The doctoral dissertation of Juha Mehtonen, MSc, entitled From bulk to single cell: Computational methods in analysis of gene expression data from hematological malignancies will be examined at the Faculty of Health Sciences. The Opponent in the public examination will be Professor Ran Friedman of Linnaeus University, and the Custos will be Professor Merja Heinäniemi of the University of Eastern Finland.

Doctoral defence

Dissertation: (link available later)