Bringing together experts from different disciplines holds a huge potential when it comes to achieving major breakthroughs in science. To drive such interdisciplinary research in male reproduction, the Novo Nordisk Foundation has awarded ReproUnion researcher Kristian Almstrup two major grants.
Through interdisciplinary collaboration between geneticists, bioinformaticians and mathematicians, Kristian and researchers from Aarhus University want to design a mathematical framework to gain insights into why, how and when novel mutations arise in the testis. Based on this, they will design a tool to predict the risk of passing on novel mutations by sequencing sperm.
“Data Science is an exciting, emerging field that is opening up new avenues for research. It allows us to ask questions, we were not able to get answers to before,” says Kristian with reference to the 20 Mio. DKK granted through the Collaborative Research Programme.
It is known that mutations in the sperm of a man can cause severe psychological disorders in his future children. Even if it is possible to sequence and map mutations in sperm, it remains challenging to analyse these data.
“Our ultimate aim is to develop a tool that can be used for patients in the clinic,” explains Kristian and adds: “Monitoring the sperm quality of prospective fathers will be an incredibly powerful tool to prevent severe disorders in children”.
The Novo Nordisk Foundation has also granted 15 Mio. DKK to study how the genetic battle between the X and Y chromosomes influences spermatogenesis and reproduction in primates. This interdisciplinary research programme is driven by Kristian Almstrup, in collaboration with Aarhus University and Copenhagen Zoo.
The sex chromosomes X and Y are known to have disproportional importance for fertility, but it is not clear why. To study this question, Kristian will work together with experts from traditionally disconnected fields including andrology, bioinformatics, evolution, and ape conservation. Having access to the world’s largest collection of primate testis samples puts the group in a unique position to apply single-cell sequencing and visualization tools. Insights from the study will guide optimization of breeding programmes in apes, and thereby support the conservation of endangered species.
“The project also has relevance for human reproduction and we want to test our approaches in samples of infertile and fertile men to better understand the importance of the sex chromosomes for human fertility. The ReproUnion Biobank RUBIC will be a fantastic resource for this!,” concludes Kristian Almstrup, Senior Scientist at the Department of Growth and Reproduction, Rigshospitalet.