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https://novonordiskfonden.dk/en/news/grant-awarded-to-solve-the-genetic-riddle-behind-genetic-disease-and-pregnancy-loss/

Grant awarded to solve the genetic riddle behind genetic disease and pregnancy loss

Grant awarded to solve the genetic riddle behind genetic disease and pregnancy loss

20 Jun 2022

One quarter of all pregnancies end with loss and one in 10 children are born with a genetic predisposition to disease. This is a fact, but researchers have little understanding of what goes wrong at the fetal development stage when things do not end up being as they should.

A new study in Denmark will elucidate this.

With a Distinguished Investigator research grant of DKK 10 million from the Novo Nordisk Foundation’s ambitious Research Leader Programme, Eva Hoffmann will generate an atlas of DNA changes that occur in sperm, human eggs, and embryos to understand what genetic changes result in pregnancy loss, malformations or genomic disorders.

“We have a good understanding of what happens, but we do not understand why. We must change this by generating an atlas of the genetic changes that occur at different times during fetal development,” explains Eva Hoffmann.

Several possible reasons for aberrations
In the 5-year study, Eva Hoffmann and colleagues will investigate DNA changes in human eggs, sperm, fertilised eggs and fetuses from pregnancy losses. This applies to both natural changes, which are an important part of combining genetic material from the mother and father in the child, but also unintentional genetic changes that lead to disease and fetal death.

Eva Hoffmann explains that there many several reasons why destructive genetic aberrations in DNA occur.

The inherited DNA from their parents could contain chromosome abnormalities such as when two different ones are combined incorrectly, or a chromosome could be missing in some of the fetal cells. This may also result from damage to the DNA that is not subsequently repaired properly.

Both can lead to arrested fetal development, which ends in pregnancy loss, or a baby being born with a severe genetic disorder.

“For example, the stem cells for sperm have to divide very many times, and this process gradually deteriorates. Then mutations and new genetic variants occur that can result in disease in the child. We know that older men have an increased risk of having children who develop schizophrenia and other mental disorders. We would like to determine what happens in connection with the cell division when the genetic material is damaged,” says Eva Hoffmann.

Clinical relevance
Eva Hoffmann says that the knowledge the research will produce is greatly needed.

It could show what happens to children who are born with various genetic variants in their DNA. This knowledge can be used clinically in connection with fertility treatment to increase the chances of success and increasingly avoid children being born with genetic disorders.

The research project will also elucidate how our DNA is repaired at different stages in life.

“DNA repair is important, but it takes place differently for each type of cell and the stage that the cell is at. This knowledge can help to improve the diagnosis of various genetic disorders and to understand why they occur,” explains Eva Hoffmann.

Major research projects have a greater impact
Eva Hoffmann is very excited that the grant from the Foundation will enable her carry out in-depth research.

Although she is already established in her field, a grant of this size enables her to focus optimally on ambitious research that would not otherwise be possible. This type of research also has the potential to have an even greater impact on society.

“Major research projects can help us to change things. Our results can affect patients, health-care workers, researchers, students and society. This is why it is so important that we can now carry out research over a longer period and without caveats, with the funds to gather materials, develop technologies and conduct analyses that result in something meaningful,” says Eva Hoffmann.

Recognition of excellence in research
In 2015, Eva Hoffmann was one of the first two recipients of the Foundation’s Young Investigator Award of DKK 20 million over 7 years, which enabled her to move her research and research group from the United Kingdom to the University of Copenhagen. At the time, she was especially attracted to the unique research community in Denmark, providing the opportunity to integrate basic research and translational research in reproductive medicine.

The Distinguished Investigator grant in 2022 thus follows on from the first Foundation grant and will enable Eva Hoffmann to continue her unique research at a high international level. The grant recognises Eva Hoffmann’s excellence in research, her successful establishment in Denmark and her ongoing efforts to take her research to new heights to benefit people and society.

Grants awarded to 44 researchers
The grant to Eva Hoffmann is part of the Foundation’s Research Leader Programme and has been awarded under the Bioscience and Basic Biomedical Research theme.

The Foundation has just awarded DKK 428 million to 44 researchers through the Programme, which supports the development of research leaders carrying out research within health, disease and sustainability. Grants under the Bioscience and Basic Biomedical Research theme accounted for 11 of the 44 grants awarded.

See the other 10 grant recipients within this theme here and read more about the 44 grants awarded in 2022 here.

Further information:

Christian Mostrup, Head of Press, Novo Nordisk Foundation, +45 30674805, cims@novo.dk