Course syllabus for Genetic diagnostics

Genetisk diagnostik

Specific entry requirements

General entry requirements for higher education. In addition, special eligibility as stated in the programme syllabus for the Biomedical laboratory science education and completed courses from semesters 1-4, of which the course Molecular Biology and Molecular Biological Methodology should be approved.

Outcomes

The course should give the student an insight into and understanding of the mechanisms behind the genetic diseases, and knowledge of what can be offered in the form of genetic guidance and laboratory diagnostics. The course also comprises laboratory sessions where different molecular biological and genetic methods to diagnose genetic diseases are used. On completion of the course, the student should be able to: - account for the mechanisms behind certain genetic diseases - describe which methods/analyses that are available for genetic diagnostics - practically carry out genetic diagnostics for certain selected diseases - describe at a general level forms for genetic guidance - independently carry out simple risk assessments - make ethical reflections concerning genetic diagnostics of different kinds

Content

The course is divided in three parts 1. Clinical genetics; 1.5 HE credits 2. Genetic diagnostics in the laboratory; 4.5 HE credits 3. Research in medical genetics; 1.5 HE credits 1. Clinical Genetics Lectures on genetic diseases and their formation mechanisms, and how they are diagnosed, and exercises regarding risk calculations. The following areas are treated: · Chromosomes and chromosome aberrations · Monogenic diseases and inheritance systems · Genetic Guidance · Prenatal diagnosis · Hereditary cancer · Strategies to identify pathogens · Risk estimations · Diagnostics in practice · Ethical problems 2. Genetic diagnostics in the laboratory The student should learn to carry out chromosome analysis and molecular diagnosis by means of FISH (Fluorescence in situ hybridisation) or DNA analysis (sequencing etc). 3. Research within medical genetics This part should show, how to go about to identify a genetic disease and illustrate how methods of modern genetics are used. The part is carried out as a group assignment where each group gets a number of scientific articles that deal with a problem in medical genetics. The problem aims at illustrating how disease mechanisms of some genetically conditioned diseases could be determined. The group assignments are presented orally at a seminar.

Teaching methods

The course is organised in the form of lectures, laboratory sessions, seminars and group assignments. The student should document laboratory work in a personal workbook.

Examination

Part 1: Written examination Part 2: Passed laboratory sessions with written reports Part 3: Presentation of the seminar assignment through oral presentation Compulsory attendance is required in the review of written exercises (risk assessments), in laboratory sessions, and at presentation of the seminar assignment assignment. In case of absence, an agreement between the student and responsible teacher concerning compensation is made. Students who have not passed the regular examination are entitled to participate in five more examinations. If the student has not passed after four examinations, he/she is recommended to retake the course (or the parts without approved results) at the next regular course date, and may, after that, participate in two more examinations. If the student has failed six examinations/tests, no additional examination or new admission in the course is given. The number of times that the student has participated in one and the same examination is regarded as an examination session. Submission of a blank examination is regarded as an examination. An examination for which the student registered but not participated in, will not be regarded as an examination. If a student fails a laboratory session, the student has the opportunity to redo the laboratory session once.

Other directives

Course evaluation will be carried out in accordance with the guidelines established by the Board of Education.

Literature and other teaching aids

• Kristoffersson, Ulf, Medicinsk genetik: en introduktion, Lund : Studentlitteratur, 2003 - 156 s. ISBN: 91-44-04168-3, LIBRIS-ID: 8907788,
• Strachan, Tom; Read, Andrew P., Human molecular genetics 3, 3. ed. : London : Garland Science, cop. 2004 - xxv, 674 s. ISBN: 1-85996-315-3, LIBRIS-ID: 9061628,