LFU:online

Based on a large variety of inherited diseases/traits, these students will understand the genetic and genomic basis of health and disease in humans and its application in medicine with regard to individual diagnosis, treatment & prevention, communication, and ethics.

• Structure, function, variability and regulation of genes and genome, variant analysis, molecular genetics & cytogenetics
• Monogenic diseases, genotypes and phenotypes, inheritance patterns; treatment strategies for genetic diseases
• Multifactorial disorders, association studies, polygenic scores
• Inherited metabolic disorders: introduction, intermediate metabolism, organelle metabolism
• Epigenetic disorders, imprinting, population genetics
• Tumor genetics, tumor disposition syndromes
• Introduction to pharmacogenetics, pharmacogenetics diseases
• Medical genetics, rare/undiagnosed/complex diseases, reference networks, ethical and legal aspects of medical genetics

Lecture with interactive elements involving student participation, audience response systems, online handouts

written exam

Students must select 2 lectures offered (VO2 each)