Projects per year
Personal profile
Research
I am particularly interested in how changes outside the coding part of our genome affect the risk of disease. In addition, we are working to improve diagnostics for patients with genetic changes that may affect proper mRNA splicing. I am interested in conditions such as Noonan syndrome and Charcot-Marie-Tooth disease, where we examine how the disease affects parameters such as education and other epidemiological measures.
Commissioned
Based on my research into hereditary diseases, I am available to journalists who seek professional knowledge in the field. I am a member of the steering committee for personalised medicine at Aarhus University and the steering committee for the FACS core at Aarhus University. At Aarhus University Hospital, I am a member of the steering committee for the Centre for Rare Diseases and CONNECT (Joint between AUH and AU).
Cooperation and dissemination
I collaborate with David M. Owens at Columbia University NY, USA, on epidermal stem cells. With Malte Spielmann from Lübeck University Hospital, Germany, we investigate how the three-dimensional structure of DNA affects health and disease. Basic aspects of CRISPR/Cas9 and the genome's three-dimensional organisation are investigated in collaboration with Bruce Conklin at the Gladstones Institutes, CA, USA.
Teaching
I teach clinical genetics in the 11th semester of medical school. It has been selected for the international semester, and the teaching is in English. Through team-based learning, classroom teaching, and lectures, I aim to help newly qualified doctors gain useful knowledge about investigating patients with suspected hereditary diseases. I have also contributed to teaching at the Aarhus Folkeuniversitetet and streamed teaching for Danish high schools.
Job responsibilities
My primary responsibility as part of the management at the Department of Clinical Genetics is to ensure that we establish optimal conditions for research in the patients we treat. Recruiting the best doctors starts with the teaching of medical students in the subject of clinical genetics, which is why this task is a high priority. I am part of the Neuroteam at the Department of Clinical Genetics, and here, my work focuses on patients with disease or risk of disease in the nervous system or the neuromuscular system.
Profile
As a Clinical Chair Professor in Clinical Genetics, I work to improve the diagnosis and treatment of patients suspected of having a hereditary disease. I hold a medical degree and a PhD from Aarhus University and completed my postdoctoral training at the Imperial Cancer Research Fund in London (Cancer Research UK).
I am a member of Muskelsvindfonden’s newly established scientific committee, where I evaluate applications for financial support for research on neuromuscular diseases.
Keywords
- Genetics
Areas of expertise
- Clinical Genetics
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- 1 Similar Profiles
Projects
- 1 Finished
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The Morphological and Molecular Biological Response to Partial Hepatectomy and Regeneration in Rats
Meier, M. (Project manager), Knudsen, A. R. (PI), Andersen, K. J. (PI), Ludvigsen, M. (Collaborator), Eriksen, P. L. (Collaborator), Hamilton-Dutoit, S. J. (Collaborator), Jensen, U. B. (Collaborator), Nyengaard, J. R. (Collaborator) & Mortensen, F. V. (Project manager)
01/04/2014 → 30/04/2015
Project: Research
Research output
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Characterization of the role of spatial proximity of DNA double-strand breaks in the formation of CRISPR-Cas9-induced large structural variations
Dahl-Jessen, M., Terkelsen, T., Bak, R. O. & Jensen, U. B., 2025, In: Genome Research. 35, 2, p. 231-241 11 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect
Gregersen, P. A., Hammarsjö, A., Graversen, L., Brix, N., Lindelöf, H., Jensen, U. B., Farholt, S., Rubak, S., Bjerre, J., Piticchio, S. G., Terkelsen, T., Nishimura, G., Hellfritzsch, M. B. & Grigelioniene, G., Jan 2025, In: Clinical Genetics. 107, 1, p. 78-82 5 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile6 Downloads (Pure) -
CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6
Misceo, D., Terkelsen, T., Bøen, S. M., Bjørnstad, P. M., Strand, M. E., Orszagh, V. C., Jensen, U. B. & Frengen, E., 2025, (E-pub / Early view) In: Clinical Genetics.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
Hailey-Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1
Blechingberg, J., Terkelsen, T., Jensen, U. B., Rønholt, K., Sommerlund, M., Vinter, H. & Graversen, L., Mar 2025, In: American Journal of Medical Genetics - Part A. 197, 3, e63933.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
Mosaic STS gene deletions in chorionic villus samples are often confined to the placenta, and they differ in size from STS gene deletions in patients with X-linked Ichthyosis
Rydder, P. M., Andreasen, L., Thomsen, S. H., Jensen, U. B., Becher, N., Dunø, M. & Vogel, I., May 2025, In: Placenta. 165, p. 16-22 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access
Activities
- 1 Member of evaluation panel
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Medlem af forskningskomite
Jensen, U. B. (Lecturer)
2024 → 2027Activity: Presentations, memberships, employment, ownership and other activities › Member of evaluation panel