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Gene expression studies from basic research to the clinic

PhD ceremony:Mr J.M. (Juha) Karjalainen
When:January 15, 2018
Start:16:15
Supervisors:prof. dr. C. (Cisca) Wijmenga, prof. dr. L.H. (Lude) Franke
Where:Academy building RUG
Faculty:Medical Sciences / UMCG

Gene expression studies from basic research to the clinic

Human genetics is an exciting, multidisciplinary field of science. Its focus of investigation is on hereditary diseases in humans, with the ultimate aim of alleviating suffering by treating and preventing various diseases.

The biggest project in biology to date, the Human Genome Project, was completed in 2003 and it unravelled the DNA sequence of the human genome. Since then, the cost and time needed for sequencing and genotyping human genomes have fallen dramatically, which now allows for massive studies to be performed consisting of hundreds of thousands of individuals. In the near future, studies of millions of people are likely to appear.

As a result of the large-scale studies during the past decade, we have come to appreciate the true complexity of genetics. In genome-wide association studies, hundreds of genetic variants have been associated with a specific phenotype or disease. However, these variants together typically only explain a small proportion of the heritability of the phenotype, while the mechanisms by which such variants lead to disease are still mostly unknown.

DNA is a marvellous molecule. It contains information which enables it to replicate itself and make the organism develop in its environment. In cells, parts of DNA (i.e. genes) are transcribed into RNA. Some RNA molecules (protein-coding genes) are further translated into proteins. Other RNAs play different roles, such as regulating the transcription of other genes.

RNA transcription (gene expression) is the first step in the DNA-to-phenotype process. Therefore, studying abundances of RNA in samples from various tissues can help us to un- derstand the cellular phenomena that lead to disease.

In this thesis, I report on my research using publicly available gene expression data on a large scale to predict the functions of genes and to prioritize genes and pathways that may be relevant to different phenotypes and diseases.