The human genome continues to be a treasure trove for researchers

Published 08.01.2016

The human genome continues to be
a treasure trove for researchers

Although the study of human genomes has made vast leaps forward in a very short time, new discoveries are still constantly being made.

The operations of many genes are highly complex and their effects on different organs can vary at different development phases.

– We still have a lot to learn about how our genes function, said Juha Kere, Professor of Molecular Genetics at the Turku Medical Conference symposium of the Finnish Medical Society on personalized medicine.

As an example, Kere mentioned a gene that increases the risk of breast cancer by approximately 20% and carries the dominantly inherited Apert syndrome, but these two effects have nothing to do with each other.

Not all inherited properties are induced by genes and many inherited properties cannot be explained by genes. This non-genetic inheritance is referred to as “the dark matter of genetics”.

Possible explanations include the combined effects of multiple genes, the relationship between genes and the environment as well as regulation of genes through epigenetic changes, which are hot research topics at the moment.

An example of epigenetic change is methylation of DNA in the blood – the passing of a carbon atom linked to three hydrogen atoms from one molecule to another – which is an inflammatory marker. This epigenetic marker can clearly be distinguished in the blood of patients with rheumatoid arthritis and healthy reference groups.

From the activity of genes to genomes

In the 1990’s, finding a genetic error could take up to five years, whereas today it can be found in weeks.

– We are starting to study genomes in a completely new way and using new technologies, Juha Kere said.

The operations of the genome can be studied with cellular and animal models and can also be done through tomography of how the human brain functions. An interesting research topic involves excess embryos from successful IVF treatments.

A specific area of interest is the genome-wide study of proneness genes. Numerous proneness genes have already been identified but the effect of a single gene is usually small and the combined effects of different genes are still unclear.

– Most people who have a proneness gene do not get the disease. Therefore, proneness genes are not feasible for screening tests, Juha Kere said.

“Memory space will be filled up with DNA and selfies”

As the price of genomic studies has decreased drastically, the amount of study has sky-rocketed, which creates whole new challenges in terms of saving all the data.

– We are in the middle of a revolution in terms of the amount of biological data. Global memory capacity will be filled up with DNA sequences and selfies, Juha Kere said jokingly.

It is hard to make any predictions about the future because of the high speed of technological developments over recent years. In any case, the benefits of genomic research for diagnostics are constantly increasing.

– I dare to predict that a combination of genomic data with traditional laboratory tests to study how genes function will increase the accuracy of discerning and categorizing diseases, Kere summarized.

Juha Kere is Professor of Molecular Genetics at the Karolinska Institutet in Stockholm and the University of Helsinki. Kere gave a presentation on genomic research at the Turku Medical Conference symposium of the Finnish Medical Society on personalized medicine.

Text and photo: Virpi Ekholm

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