Graduate School of health and Medical Sciences

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Medical genetics and genomics
Provider: Faculty of Health and Medical Sciences

Activity no.: 3568-26-00-00	There are 11 available seats
	Enrollment deadline: 01/08/2026

Date and time	01.09.2026, at: 08:30 - 03.09.2026, at: 15:30
Regular seats	24
Course fee	3,480.00 kr.
Lecturers	Elsebet Østergaard
ECTS credits	2.10

Contact person	Elsebet Østergaard E-mail address: elsebet.oestergaard.01@regionh.dk

Enrolment Handling/Course Organiser	PhD administration SUND E-mail address: phdkursus@sund.ku.dk

Enrolment guidelines This is a specialised course. This means that 80% of the seats are reserved to PhD students enrolled at the Faculty of Health and Medical Sciences at UCPH and 20% of the seats are reserved to PhD students from other Danish Universities/faculties (except CBS). The course is free of charge for PhD students at Danish universities (except Copenhagen Business School), and for PhD Students from NorDoc member faculties. All other participants must pay the course fee. Anyone can apply for the course, but if you are not a PhD student at a Danish university, you will be placed on the waiting list until enrollment deadline. This also applies to PhD students from NorDoc member faculties. After the enrollment deadline, available seats will be allocated to applicants on the waiting list. Learning objectives A student who has met the objectives of the course will be able to: 1. Understand the human genome structure and explain the effect of variants on protein function 2. Understand and use variant nomenclature 3. Apply ACMG guidelines for variant interpretation and classification (including use of public databases, programs and in silico analysis) 4. Evaluate ethical, legal and clinical considerations in genomic medicine (including data storage, biobank, informed consent, secondary findings and clinical implication of results) Content The course will cover a general description of the human genome including the structure of genes and how genetic variants may lead to abnormal RNA and protein. The course includes a brief description of inheritance patterns. The students will be introduced to and work with variant nomenclature, variant filtration and variant interpretation using different tools and software. Various sequencing methods are presented as well as ways to process e.g. genome sequencing data. The course will also cover functional analyses, genetic counselling in practice, genome-wide association studies, the use of biobank data and ethical application for genome research. Participants PhD students with a background in medical sciences, biology, biochemistry or similar. Relevance to graduate programmes The course is relevant to PhD students from the following graduate programmes at the Graduate School of Health and Medical Sciences, UCPH: All graduate programmes Language English Form This is an on-site course based on lectures, case-based group work and expert presentations by invited specialists. Course director Elsebet Østergaard Professor, consultant, PhD Rigshospitalet Department of Clinical Genetics Blegdamsvej 9 2100 Copenhagen Denmark And Department of Clinical Medicine University of Copenhagen Blegdamsvej 3 2200 Copenhagen Mail: Elsebet.oestergaard.01@regionh.dk Teachers Zeynep Tumer, professor, Department of Clinical Genetics, Rigshospitalet and UCPH Thomas van Overeem Hansen, professor, Department of Clinical Genetics, Rigshospitalet and UCPH Karin Wadt, professor, Department of Clinical Genetics, Rigshospitalet and UCPH Mette Bertelsen Vardrup, professor, Department of Clinical Genetics, Rigshospitalet and UCPH Dates 1-3 September 2026 Course location Rigshospitalet Registration Please register before 1 August 2026 Expected frequency Annually Seats to PhD students from other Danish universities will be allocated on a first-come, first-served basis and according to the applicable rules. Applications from other participants will be considered after the last day of enrolment Note: All applicants are asked to submit invoice details in case of no-show, late cancellation or obligation to pay the course fee (typically non-PhD students). If you are a PhD student, your participation in the course must be in agreement with your principal supervisor.

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