Kristian Almstrup
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
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 University of Copenhagen. Our research focus on studies that connect genetic and epigenetic variation to reproductive endpoints, testicular gene expression and functional studies of sperm cells.
Group homepage: https://www.rigshospitalet.dk/almstrup
Primary fields of research
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)
PhD course in Genetics of Reproduction, May 16-17, 2022
Graduate programmes: Life Cycle in Medicine and Cellular & Genetic Medicine
Possible conflicts of interest
None
Current research
Genetic and epigenetic variation
The Almstrup group has been pioneering in describing genetic and epigenetic variation associated with several 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 and DNA methylation patterns that have a significant effect on the age of pubertal onset.
Small RNAs
Small RNAs, like micro RNAs (miRNAs) and the PIWI-interacting RNAs (piRNAs), is an area of great interest to our 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/nuclei methods and spatial transcriptomics.
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. 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.
Selected publications
- Published
Variant PNLDC1, Defective piRNA Processing, and Azoospermia
Nagirnaja, L., Mørup, N., Nielsen, J. E., Stakaitis, R., Golubickaite, I., Oud, M. S., Winge, S. B., Carvalho, F., Aston, K. I., Khani, F., Van Der Heijden, G. W., Marques, C. J., Skakkebæk, Niels Erik, Rajpert–de Meyts, E., Schlegel, P. N., Jørgensen, N., Veltman, J. A., Lopes, A. M., Conrad, D. F. & Almstrup, Kristian, 19 Aug 2021, In: New England Journal of Medicine. 385, 8, p. 707-719 13 p.Research output: Contribution to journal › Journal article › peer-review
- Published
PIWI ‐interacting RNAs and human testicular function
Saritas, G., Main, A. M., Winge, S. B., Mørup, N. & Almstrup, Kristian, 2022, In: WIREs Mechanisms of Disease. 14, 6, e1572.Research output: Contribution to journal › Journal article › peer-review
Diverse monogenic subforms of human spermatogenic failure
Nagirnaja, L., Lopes, A. M., Charng, W., Miller, B., Stakaitis, R., Golubickaite, I., Stendahl, A., Luan, T., Friedrich, C., Mahyari, E., Fadial, E., Kasak, L., Vigh-Conrad, K., Oud, M. S., Xavier, M. J., Cheers, S. R., James, E. R., Guo, J., Jenkins, T. G., Riera-Escamilla, A., Barros, A., Carvalho, F., Fernandes, S., Gonçalves, J., Gurnett, C. A., Jørgensen, N., Jezek, D., Jungheim, E. S., Kliesch, S., McLachlan, R. I., Omurtag, K. R., Pilatz, A., Sandlow, J. I., Smith, J., Eisenberg, M. L., Hotaling, J. M., Jarvi, K. A., Punab, M., Rajpert-De Meyts, E., Carrell, D. T., Krausz, C., Laan, M., O'Bryan, M. K., Schlegel, P. N., Tüttelmann, F., Veltman, J. A., Almstrup, Kristian, Aston, K. I. & Conrad, D. F., 26 Dec 2022, In: Nature Communications. 13, 1, p. 7953Research output: Contribution to journal › Journal article › peer-review
- Published
The molecular evolution of spermatogenesis across mammals
Murat, F., Mbengue, N., Winge, S. B., Trefzer, T., Leushkin, E., Sepp, M., Cardoso-Moreira, M., Schmidt, J., Schneider, C., Mößinger, K., Brüning, T., Lamanna, F., Belles, M. R., Conrad, C., Kondova, I., Bontrop, R., Behr, R., Khaitovich, P., Pääbo, S., Marques-Bonet, T., Grützner, F., Almstrup, Kristian, Schierup, M. H. & Kaessmann, H., 2023, In: Nature. 613, p. 308–316Research output: Contribution to journal › Journal article › peer-review
- Published
Environmental factors in declining human fertility
Skakkebæk, Niels Erik, Lindahl-Jacobsen, R., Levine, H., Andersson, A., Jørgensen, N., Main, Katharina Maria, Lidegaard, Øjvind, Priskorn, Lærke, Holmboe, S. A., Bräuner, E. V., Almstrup, Kristian, Franca, L. R., Znaor, A., Kortenkamp, A., Hart, R. J. & Juul, Anders, 2022, In: Nature Reviews Endocrinology. 18, p. 139–157Research output: Contribution to journal › Review › peer-review
- Published
Identification of 22 susceptibility loci associated with testicular germ cell tumors
Pluta, J. & The Testicular Cancer Consortium, T. T. C. C., 2021, In: Nature Communications. 12, 1, 4487.Research output: Contribution to journal › Journal article › peer-review
Application of miRNAs in the diagnosis and monitoring of testicular germ cell tumours
Almstrup, Kristian, Lobo, J., Mørup, N., Belge, G., Rajpert-De Meyts, E., Looijenga, L. H. J. & Dieckmann, K. P., 1 Apr 2020, In: Nature Reviews Urology. 17, 4, p. 201-213 13 p.Research output: Contribution to journal › Review › peer-review
Selected activities
Andrology (Journal)
Almstrup, Kristian (Editor)
1 Jan 2023Activity: Peer-review and editorial work types › Editor of Research journal › Communication
Scientific Reports (Journal)
Almstrup, Kristian (Editor)
17 Aug 2020Activity: Peer-review and editorial work types › Editor of Research journal › Research
Frontiers in Cell and Developmental Biology (Journal)
Almstrup, Kristian (Editor)
9 Nov 2021Activity: Peer-review and editorial work types › Editor of Research journal › Research
ID: 33971432
Most downloads
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286
downloads
EDC IMPACT: Chemical UV filters can affect human sperm function in a progesterone-like manner
Research output: Contribution to journal › Journal article › peer-review
Published -
209
downloads
Pubertal development in healthy children is mirrored by DNA methylation patterns in peripheral blood
Research output: Contribution to journal › Journal article › peer-review
Published -
176
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Cell context-specific expression of primary cilia in the human testis and ciliary coordination of Hedgehog signalling in mouse Leydig cells
Research output: Contribution to journal › Journal article › peer-review
Published