Personlig profil
Kort præsentation
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.
Primære forskningsområder
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.
Undervisnings- og vejledningsområder
Medical genetics course (Medicine and Molecular Biomedicine)
PhD course in Genetics of Reproduction, 2022 and 2025
Graduate programmes: Life Cycle in Medicine and Cellular & Genetic Medicine
Aktuel forskning
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.
Mulige interessekonflikter
None
Eksterne ansættelser
Professor, Department of Growth and Reproduction
Emneord
- Det Sundhedsvidenskabelige Fakultet
- Reproduktion
- Andrologi
- Kønskromosomer
- Genetik
- Epigenetik
- single cell RNA sequencing
- Sekventering
- Non-coding RNAs
- Klinefelter
- Pubertet
- Testikelfunktion
- Spermatogenese
- Testikelkræft
- Sædkvalitet
- Mandlig infertilitet
- Fertilitet
- Kimcelleudvikling
Samarbejde og topforskningsområder i de sidste fem år
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Long-read sequencing of primate testis and human sperm allows identification of recombination events in individuals
Porsborg, P. S., Charmouh, A. P., Singh, V. K., Winge, S. B., Hvilsom, C., Oroperv, C., Hansen, L. T., Berner, J. A., Pelizzola, M., Laurentino, S., Neuhaus, N., Hobolth, A., Bataillon, T., Besenbacher, S., Almstrup, K. & Schierup, M. H., 2025, I: Nature Communications. 16, 1, 13 s., 10337.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Åben adgangFil25 Downloads (Pure) -
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study
Ugalde-Morales, E., Wilf, R., Pluta, J., Ploner, A., Fan, M., Damra, M., Aben, K. K., Anson-Cartwright, L., Chen, C., Cortessis, V. K., Daneshmand, S., Ferlin, A., Gamulin, M., Gietema, J. A., Gonzalez-Niera, A., Grotmol, T., Hamilton, R. J., Harland, M., Haugen, T. B. & Hauser, R. & 30 flere, , 2025, I: American Journal of Human Genetics. 112, 3, s. 630-643 14 s.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Åben adgangFil6 Citationer (Scopus)33 Downloads (Pure) -
X‑chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome
Winge, S. B., Skakkebaek, N. E., Aksglaede, L., Saritaş, G., Rajpert-De Meyts, E., Goossens, E., Juul, A. & Almstrup, K., 2024, I: Cell Death & Disease. 15, 6, 9 s., 396.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Åben adgangFil8 Citationer (Scopus)68 Downloads (Pure) -
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. & 4 flere, , 2023, I: Nature. 613, s. 308–316Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Åben adgangFil133 Citationer (Scopus)139 Downloads (Pure) -
Diverse monogenic subforms of human spermatogenic failure
Nagirnaja, L., Lopes, A. M., Charng, W.-L., 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. & 29 flere, , 26 dec. 2022, I: Nature Communications. 13, 1, s. 7953Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Åben adgang61 Citationer (Scopus) -
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., Skakkebaek, N. E., Rajpert–de Meyts, E., Schlegel, P. N., Jørgensen, N., Veltman, J. A., Lopes, A. M., Conrad, D. F. & Almstrup, K., 19 aug. 2021, I: New England Journal of Medicine. 385, 8, s. 707-719 13 s.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Åben adgangFil96 Citationer (Scopus)120 Downloads (Pure) -
Environmental factors in declining human fertility
Skakkebæk, N. E., Lindahl-Jacobsen, R., Levine, H., Andersson, A.-M., Jørgensen, N., Main, K. M., Lidegaard, Ø., Priskorn, L., Holmboe, S. A., Bräuner, E. V., Almstrup, K., Franca, L. R., Znaor, A., Kortenkamp, A., Hart, R. J. & Juul, A., 2022, I: Nature Reviews Endocrinology. 18, s. 139–157Publikation: Bidrag til tidsskrift › Review › peer review
329 Citationer (Scopus) -
Application of miRNAs in the diagnosis and monitoring of testicular germ cell tumours
Almstrup, K., Lobo, J., Mørup, N., Belge, G., Rajpert-De Meyts, E., Looijenga, L. H. J. & Dieckmann, K. P., 1 apr. 2020, I: Nature Reviews Urology. 17, 4, s. 201-213 13 s.Publikation: Bidrag til tidsskrift › Review › peer review
92 Citationer (Scopus)
Aktiviteter
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Andrology (Tidsskrift)
Almstrup, K. (Redaktør)
1 jan. 2023Aktivitet: Peer-review og redaktionelt arbejde - typer › Redaktør af tidsskrift › Formidling
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Scientific Reports (Tidsskrift)
Almstrup, K. (Redaktør)
17 aug. 2020Aktivitet: Peer-review og redaktionelt arbejde - typer › Redaktør af tidsskrift › Forskning
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Genetics identifies piRNAs as essential for human spermatogenesis
Almstrup, K. (Andet)
21 sep. 2022Aktivitet: Præsentationer, medlemskaber og andre aktivitetstyper › Foredrag og mundtlige bidrag
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Genetics identifies piRNAs as essential for male germ cells
Almstrup, K. (Andet)
16 maj 2022Aktivitet: Præsentationer, medlemskaber og andre aktivitetstyper › Foredrag og mundtlige bidrag
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Genetics of Reproduction
Almstrup, K. (Deltager)
16 maj 2022 → 17 maj 2022Aktivitet: Deltagelse i arrangement eller begivenhed - typer › Organisation af og deltagelse i konference
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Variant PNLDC1, defective piRNA processing, and azoospermia; a small genetic mutation with a huge impact on male sperm production
Almstrup, K. (Andet)
24 nov. 2021Aktivitet: Præsentationer, medlemskaber og andre aktivitetstyper › Foredrag og mundtlige bidrag
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Frontiers in Cell and Developmental Biology (Tidsskrift)
Almstrup, K. (Redaktør)
9 nov. 2021Aktivitet: Peer-review og redaktionelt arbejde - typer › Redaktør af tidsskrift › Forskning
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Non-coding RNAs in testicular cancer and reproductive disorders
Almstrup, K. (Andet)
31 maj 2021Aktivitet: Præsentationer, medlemskaber og andre aktivitetstyper › Foredrag og mundtlige bidrag
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