Short presentation

The Almstrup group is mainly located at the Department of Growth and Reproduction, at Copenhagen University Hospital – Rigshospitalet, but is also affiliated with the Department of Cellular and Molecular Medicine, at the University of Copenhagen. Our research focuses on studies that connect genetic and epigenetic variation to reproductive endpoints, testicular gene expression and functional studies of sperm cells.

Primary fields of research

Human reproduction, andrology and genetics. In particular, genetic and epigenetic variation in relation to reproductive endpoints, testicular gene expression and functional studies of sperm cells.

Teaching

Medical genetics course (Medicine and Molecular Biomedicine)

Current research

Genetic and epigenetic variation

We are interested in describing how genetic and epigenetic variation are associated with different reproductive endpoints. This includes genetic variants causing non-obstructive azoospermia (GEMINI, IMIGC consortia), genetic variants associated with testicular germ cell cancer (TECAC consortia), as well as genetic variants, DNA methylation patterns and small RNAs that have a significant effect on the age of pubertal onset.

Small RNAs

Small RNAs, like microRNAs (miRNAs) and the PIWI-interacting RNAs (piRNAs), are an area of great interest to our group. We have shown that the piRNAs, which are nearly unique to male germ cells, are essential for human spermatogenesis and identified small RNAs in seminal plasma and serum that can serve as markers of testicular function. For example, specific miRNAs show great promise as novel sensitive biomarkers of testicular germ cell cancer.

Testicular gene expression

The testis is a complex tissue with many different cell types, and studies of testicular gene expression, hence, need to consider the composition of cell types that are present. Our group has been involved in studies of testicular gene expression since the pre-omics era, using differential display techniques, and is now working with novel single-cell/nuclei methods and spatial transcriptomics. Comparative studies across primates have allowed us to describe the molecular evolution of spermatogenesis, and this continues to be an interest of our group.

Sperm cell function

Sperm cells are unique because they have a tightly packed haploid genome, are extremely differentiated, and have the sole purpose of fertilising an egg. Besides genetic and epigenetic influences, we are also interested in understanding how sperm cells function. We have shown that the number of viable sperm cells with an intact acrosome is important for the fertility of men and that environmental chemicals can influence sperm cell function directly.

Possible conflicts of interest

None