The Almstrup group, which is part of the Department of Growth and Reproduction, at Copenhagen University Hospital - Rigshospitalet, has a particular focus on studies connecting genetic and epigenetic variation to reproductive endpoints, testicular gene expression and functional studies of sperm cells.
Genetic and epigenetic variation
The Almstrup group has been pioneering in describing genetic and epigenetic variation associated with reproductive endpoints. We have identified genetic variants that have a significant effect on pubertal initiation and identified changes in DNA methylation that tightly follow pubertal development. The Almstrup group also participate in several international genetic consortia focusing on testicular function.
The Genetics of Male Infertility Initiative (GEMINI) and the International Male Infertility Genomics Consortium (IMiGC) aims to describe the genetics of non-obstructive azoospermia.
The testis Cancer Consortium (TECAC) aims to describe the genetics of testicular germ cell cancer.
Small RNAs, like micro RNAs (miRNAs) and the PIWI-interacting RNAs (piRNAs), is an area of great interest to the Almstrup Group. We have shown that the piRNAs, which are nearly unique to male germ cell, are essential for human spermatogenesis and have identified piRNAs in seminal plasma and in circulation that may serve as markers of testicular function. However, also specific miRNAs show great promise as novel sensitive biomarker 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, therefore, needs to take into account the composition of cell types that are present in the analysis. The Almstrup group has been involved in studies of testicular gene expression since the pre-omics era, using differential display techniques, and are now working with single-cell methods. Recently, we have used RNA sequencing to describe gene expression patterns in testicular tissue from men with Klinefelter (47,XXY) syndrome and used single-cell RNA sequencing to profile spermatogenesis.
Sperm cell function
Sperm cells are unique because they have a tightly packed haploid genome, are extremely differentiated, and has the sole purpose of fertilising an egg. The Almstrup lab is engaged in work related to sperm cell physiology and next-generation semen analysis. 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.
Current team members
Nina Mørup Nygaard, Sofia B. Winge, Gülizar Saritas, Ailsa Maria Main
Merve Tatli, María Cecilia Lardone, Kishlay Kumar, Ghazal Alavioon, Rytis Stakaitis, Ieva Golubickaite.
Mette Bjerg Lindhøj, Marie B. Nygaard, Pernille Norup, Dorte L. Egeberg Palme, Malte S. Nissen, Andreas C. Lawaetz, Dina Kristensen, Tine Hvarness, Olga Maria Culbreth, Fozia Jabeen Shah.
Prof. Mikkel Schierup, Bioinformatics Research Centre, Aarhus University, DK.
Prof. Don Conrad, Department of Genetics, Washington University, USA.
Prof. Katherine L. Nathanson, University of Pennsylvania, USA.
Prof. Henrik Kaessmann, University of Heidelberg, Germany.