The student will learn the basis of human and medical genetics; in particular the student will gain knowledge on mendelian, chromosomal, mitochondrial and multifactorial disorders; concepts of pharmacogenetics, genetic counselling and genetic testing.
concept of mutation, variant and polymorphism; pedigree drawing; inheritance of monogenic traits, Mendel laws; autosomal dominant, autosomal recessive, x-linked transmission; concepts of penetrance, expression, anticipation, fitness, mosaicism, phenocopy, imprinting, de novo mutations; dynamic mutations; genetic and allelic heterogeneity; oligogenic inheritance; mitochondrial dna and inheritance; karyotype and chromosomal classification; numerical and structural chromosomal aberrations; multifactorial inheritance, quantitative traits, threshold effect; multifactorial diseases, case-control studies; concepts of pharmacogenetics and pharmacogenomics; classifications and applications of genetic testing; genetic counseling.
Written examination with multiple choice questions
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