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Title Gene Regulation in the Early Human Embryo
Course number 3080
Programme Utveckling och regeneration (DevReg)
Language English
Credits 1.5
Date 2021-09-20 -- 2021-09-24
Responsible KI department Institutionen för biovetenskaper och näringslära
Specific entry requirements Knowledge in pre-implantation embryology corresponding to the course Embryology I.
Purpose of the course The aim of the course is to instruct the participants in human reproductive biology with focus on gene regulation and pathways that control the early embryo formation.
To provide understanding in complexity of the molecular mechanisms that involve the successfully development of the early cleavage embryo, so that the student can evaluate, troubleshoot and improve existing assisted reproductive technology (ART) systems.
Intended learning outcomes At the conclusion of this course students should be able to:
1. Show a good understanding of the genetic and epigenetic aspects of the preimplantation period of mammalian development that is crucial for reproductive success.
2. Show a good understanding of the dynamic changes in gene expression during human early embryo development involving differentiation, survival, fragmentation, zygotic genome activation, cell determination, embryo patterning and apoptosis, gene profiling from oocyte development to blastocyst formation.
3. Explain the general epigenetic influence of the laboratory and clinical environment on embryo culture and physical-chemical properties of the specific culture systems.
4. Produce coherent, logical and concise explanations of data and concepts in the field of gene regulation in the early human embryo - both in writing and orally, through consideration of the course material.
5. Discuss scientific literature related to ART and reproduction physiology in a constructive and informed fashion.

Contents of the course 1.Genetics in oocyte maturation and embryo development
2. Importance of epigenetics in embryo development
3. Cell-cell (blastomere) interactions and receptor signaling
4. Gamete interaction
5. Zygotic genome activation
6. Embryo morphology, euploidy, aneuploidy and mosaicism
7. Implantation and post-implantation genetics
8. Genetic aspects of prenatal diagnostics, preimplantation genetic diagnosis and preimplantation genetic screening.
9. General ethical aspects
10. Literature work and discussion in reproductive genetics
Teaching and learning activities The course runs for one week with lectures, and literature work as part of the course examination.


Compulsory elements Attendance during the lectures and active part in the literature work.
Examination The examination will consist of an individual or group oral presentation on a course topic, followed by a questions and answers session and an individual written exam.



Literature and other teaching material Recommended literature:
In vitro fertilization (3rd edition) Elder and Dale, Cambridge University Press, 2010. Textbook of Assisted Reproductive Techniques: Laboratory and Clinical Perspectives, 3rd edition Gardner DK, Weissman A, Howles CM, Shoham Z, editors. 2009.
Screening the Single Euploid Embryo: Molecular Genetics in Reproductive Medicine 1st ed. Edition, E. Scott Sills, Editor, Springer 2015.
Embryo Cleavage, Edited by Bin Wu, Publisher: InTech, Chapters published September 2017
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 7th Edition by: Aubrey Milunsky, M.D., D.Sc., F.R.C.P., Wiley & Sons UK 2015.
Number of students 8 - 14
Selection of students Selection will be based on 1) the relevance of the course syllabus for the applicant's doctoral project (according to written motivation), 2) date for registration as a doctoral student (priority given to earlier registration date).
More information The course will be held at Karolinska Institutet, Department of Bioscience and Nutrition, NEO Huddinge.
Additional course leader
Latest course evaluation Course evaluation report
Course responsible Jose Inzunza
Institutionen för biovetenskaper och näringslära
08-585 850 93
Jose.Inzunza@ki.se

Hälsovägen 7, Novum

141 86
Stockholm
Contact person Virpi Töhönen
Institutionen för biovetenskaper och näringslära

Virpi.Tohonen@ki.se