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5. 1. 4. Clinical Genetics (lecture and seminar)

Third Clinical Year, Module offering 8x per year

ECTS-Credits: 4

Duration: 2 week

Language of Instruction: German

Course instructor/Office


  1. Content
    • Clinical and molecular basics
    • Chromosomes: visualisation, disease patterns, maldistribution
    • Genetic basis of normal and abnormal gender development
    • Inheritance patterns: autosomal dominant, autosomal rezessiv, X-chromosomal
    • Mitochondrial inheritance
    • Trinucleotide repeat disorders and imprinting defects
    • Complex traits and multifactorial inheritance
    • Hereditary and acquired cancer
    • Environmental causes of malformations
    • Predictive diagnosis
    • Prenatal diagnosis
    • Population genetics
    • Genetic counselling
  2. 2. Aims (learning outcomes and competences)
    • Introduction to clinical genetics and disease patterns, pathomechanisms as well as diagnostic, therapeutic and preventive options.
    • Discussion of the variable public and individual responses to diseases and handicaps
    • The role of the physician in the management of patients with genetic diseases and their families
    • Understanding the indications for genetic tests and diagnoses
    • Ethical aspects of genetic counselling and diagnosis
    3. Prerequisites
    • Successful completion of preclinical studies
    4. Teaching methods
    • A series of weekly lectures (1.5 hours per week) with patient/case presentation and discussion.
      Seminar: 10-day module (4 hours per day); approx. 35 students per group.
    5. Examination /Assessment methods
    • Final written examination (2nd trial: written re-examination; 3rd trial: oral examination)
    6. Recommended reading
    • Buselmaier /Tariverdian, Humangenetik, Springer (4th revised ed. 2007)
    • Murken / Grimm / Holinski-Feder, Taschenlehrbuch Humangenetik, Thieme ( 7th ed., completely revised, 2006)
    • Passarge, Taschenatlas der Genetik, Thieme (2nd ed., completely revised and expanded, 2003)
    • Strachan / Read, Molekulare Humangenetik, Spektrum Verlag (3rd ed., 2005)