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COURSE TITLE

Medical Genetics, 7,5 credits, 7,5 points

COURSE CATEGORY   Single subject course MAIN FIELD OF STUDY   Medical Biology SUBJECT AREA   Medical Biology   COURSE CODE   8FA224

AIM OF THE COURSE

In this course the student will acquire advanced theoretical and methodological knowledge in medical genetics and molecular mechanisms involved in, monogenic and polygenic traits and diseases. LEARNING OUTCOMES By the end of the course the students will be able to: Knowledge and understanding - Comprehend and integrate the knowledge on molecular mechanisms involved in monogenic and polygenic traits to understand the genetic basis of diseases - Describe the interplay between genetic and environmental factors - Explain how concepts of genetic variation in populations are affecting evolution and population genetics - Identify strategies and explain the theoretical basis of molecular genetics methodology to be able to identify disease genes Competence and skills - Demonstrate how calculation of genetic association and risk is performed - Apply computer-based methods to be able to identify disease genes - Practically perform and explain selected molecular genetics methodology for gene identification Judgement and approach - Interpret experimental results and evaluate genetic association studies and risk calculations - Present, evaluate and communicate pros and cons of molecular genetics methods - Summarise and assess scientific literature within medical genetics

CONTENTS

- Molecular mechanisms involved in monogenic and polygenic traits and diseases. - Disease gene identification. - How environmental factors influence the genome and affects expression. - Genetic variation in populations and its influence on genetic predisposition, including molecular/genetic epidemiology. - Calculation of allele frequencies, associations and risk. - Principles of major molecular genetic laboratory methods and interpretation of results, hands-on knowledge of selected methodology. - Seminars on selected scientific papers

TEACHING

General: Linköping University Master’s Programme in Experimental and Medical Biosciences applies student-centered learning among which Problem Based Learning (PBL) is one pedagogical philosophy and method. To prepare the students for future employment, practical and experimental work in laboratory settings are important parts of the programme in courses as well as in individual projects. Specific: In this course, lectures, tutorial groups, seminars, demonstrations and laboratory work are used.

EXAMINATION

COMPULSORY ITEMS Active participation in the compulsory parts is necessary to pass the course, and assessment of them is carried out continuously. Compulsory parts in this course are: tutorial groups, laboratory work, and seminars EXAMINATION Individual written examination. Oral presentation of a literature assignment (group assignment with individual assessment). Written report and oral presentation of laboratory work (group assignment with individual assessment). SCOPE OF RE-EXAMINATION The extent of a re−examination shall be similar to the regular examination. CHANGE OF EXAMINERS Students who have failed the course or part of the course twice are entitled to request another examiner for the following examination occasion, unless specific reasons are present. REGISTRATION FOR EXAMINATION The procedure for registration should be stated prior to the commencement of each course. In other respects, regulations concerning examination and examiners are applied in accordance with Linköping University policy.

ADMISSION REQUIREMENTS

At least three years of full-time undergraduate studies (180 credits) in a major subject area with relevance for biomedical sciences. This could include previous studies at faculties of medicine, technology/natural sciences, odontology or veterinary medicine. A major part of courses (90 credits) should be in subjects such as biochemistry, cell biology, molecular biology, genetics, gene technology, microbiology, immunology, histology, anatomy, and pathology. The lowest acceptable grade from undergraduate studies is Pass. Applicants must also have documented knowledge of English equivalent to Engelska B/Engelska 6; i.e. an internationally recognized test, e.g. TOEFL (minimum scores: Paper based 575 + TWE-score 4.5, and internet-based: Score of 20 (scale 0-30) in written test, total score of 90), IELTS, academic (minimum score: Overall mark of 6.5 and no section below 5.5), or equivalent.

GRADING

The course is graded on the following scale: Pass; Fail.

CERTIFICATE

Course certificates are issued by the Board of the Faculty of Health Sciences when requested by the student

COURSE LITERATURE

The course literature is decided upon by the department in question.

OTHER INFORMATION

The planning and implementation of a course must take its starting point in the wording of the course plan. The course evaluation included in each course must therefore take up the question how well the course agrees will the course plan. The course is carried out in such a way that both men’s and women’s experience and knowledge is made visible and developed. If the course is withdrawn, or is subject to major changes, examinations according to this course plan are normally offered on a total of three occasions within one year, one of them in close connection to the first examination.

Medical Genetics, 7,5 credits Medicinsk genetik   Department responsible for the course or equivalent: IKE- Institutionen för Klinisk och Experimentell medicin             Registrar No:   Course Code: 8FA224           Exam codes: see Local Computer System       Subject/Subject Area : Medical Biology                       Level   Education level     Subject Area Code   Field of Education         MB1   Medicine