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Swedish title	Kardiovaskulär genetik
English title	Cardiovascular genetics
Course number	2907
Credits	0.6
Responsible KI department	Institutionen för medicin, Solna
Specific entry requirements	University education in medicine or biomedicine
Grading	Passed /Not passed
Established by	The Board of Doctoral Education
Established	2016-03-23
Purpose of the course	The course is aiming to give the participants the background knowledge of genetics and its current use for studying cardiovascular disease. Specifically, to get acquainted with the main genetic approaches (such as genome-wide association analysis, gene-centric analysis), to present and discuss scientific articles, and to give peer feedback to classmates regarding oral presentations.
Intended learning outcomes	Specifically, the student should be able to: 1. explain the concepts: genome-wide approach vs. candidate gene approach, imputation, hap-map versus 1000 genomes, linkage disequilibrium, common variants vs. rare variants, complex diseases, locus. 2. describe different strategies to identify the best candidate genes and variants in a gene-associated region.
Contents of the course	The course will include an introductory genetics lecture and a journal club discussing a recently published paper. The overall questions to be addressed will be: 1. What can we expect from a genetic analysis? What does it mean that we have an associated locus? From the locus to the gene. 2. Implications for disease: how do we interpret results? How do we apply genetic results to the clinic? 3. What is known about the genetics of cardiovascular disease?
Teaching and learning activities	The module will use two recent cardiovascular genetics publications to discuss different aspects of genetic studies. Students will be given a guided set of questions and they will have to work in groups to discuss and answer them. Students will have presentations and discussions of the assigned group work and at the end of the module there will be a summary discussion and clarification of the main concepts. The course will consist of 4 half-day sessions: 1st half-day: Introductory lecture, description of genetic concepts, description of the paper and guidelines for the group work. 2nd half-day: Group work: scientific paper reading and discussion of the questions. 3rd half-day: Preparation of the presentations. 4th half-day: Presentation and discussion of the assigned group work. Summary discussion and clarification of cocepts.
Compulsory elements	The participants must attend the sessions of seminars, group work, presentations and discussion. The students who have missed these sessions can agree on an additional written assignment or final exam to compensate the absence.
Examination	The oral exam will be based on the student presentations and their participation in the discussions during the second day.
Literature and other teaching material	The organizers of the course module will provide course participants with organized electronic handouts and teaching materials from all lectures. Mandatory reading: Brænne et al, Prediction of Causal Candidate Genes in Coronary Artery Disease Loci, Arterioscler Thromb Vasc Biol, 2015 Further reading: Nikpay et al, A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease, Nature Genetics, 2015 Selected chapters from Strachan and Read, Human Molecular Genetics, latest edition.
Course responsible	Maria Sabater Lleal Institutionen för medicin, Solna maria.sabater.lleal@ki.se
Contact person	Nailin Li Institutionen för medicin, Solna 08-51773996 073-6172673 Nailin.Li@ki.se Clinical Pharmacology Unit Karolinska University Hospital-Solna 17176 Stockholm Rona J Strawbridge Institutionen för medicin, Solna Rona.Strawbridge@ki.se

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