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080505A Clinical genetics, 2 ECTS cr 
Code 080505A  Validity 01.01.1950 -
Name Clinical genetics  Abbreviation CLINICAL GENETI 
Scope2 ECTS cr   
Type Intermediate Studies Discipline5401 Medicine 
TypeCourse   
  Grading1 - 5, pass, fail 
 
   
Preceding studies
    A540110 Four Years of Medical Studies completed
Unit Medicine 

Description
ECTS Credits  1.5 ECTS credits 
Language of instruction  Finnish. 
Timing  C9-C10 (5th year) 
Learning outcomes  Upon completion the student should be able to:
- identify/suspect a genetic disease in the patient/family
- identify patients who need genetic counselling and refer them further to a clinical genetics unit
- describe the structure of chromosomes and genes, their examination and to interpret the results of a chromosome or DNA examination
- explain the recurrence risks in different modes of inheritance and to discuss their significance for family members and the possibilities of
prenatal diagnostics
- explain the unique spectrum of genetic disease in Finland
  understand the special nature of genetic disease and recognize the ethical problems related to genetic testing, and to recognize the need of special care for families with a child suffering from congenital malformations/genetic disease and adult patients with serious genetic conditions. 
Contents  Clinical genetics as a medical speciality. Examination of the patient and family, drawing the pedigree. Chromosomal disorders, principles and indications of chromosome studies. Principles and clinical applications of DNA studies. Population genetics and "Finnish Disease Heritage". Hereditary cancer, diagnosis, examination and counselling. Congenital malformations, basics of dysmorphology and syndrome identification. Prenatal diagnostics, genetic screening and counselling. Genetics of complex diseases. Genetic ethics. Principles and practice of genetic counselling, genetic services. 
Learning activities and teaching methods  Lectures (16h), Seminar (4h), Small group teaching (2h) 
Recommended or required reading  Textbook: Aula P, Kääriäinen H, Palotie A: Perinnöllisyyslääketiede. Duodecim 2006.
Recommended additional reading: Read A, Donnai D: New Clinical Genetics. Scion 2010. 
Assessment methods and criteria  Lectures, seminar, small group teaching (obligatory). Written examination based on lectures and textbook. 
Grading  The evaluation scale is pass/fail. 
Person responsible  Jukka Moilanen, Clinical Lecturer in Clinical Genetics 


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