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Module FM Molecular basis of genetic disorders

Students should learn the basics of classical and molecular Human Genetics, and key methods for the diagnosis of genetic disease.

They should develop a solid understanding of the molecular pathology of genetic disorders. They should understand the relationship between genotype and phenotype.

Knowledge

• Genome organization, and gene structure and function

• Basic conceptual understanding of genetic disorders

• Methods of molecular analysis

• Human genetic databases

Skills

• Preparation of test material for molecular genetic diagnostics

• Practical skills in human genetic diagnostics and diagnosis

• Practical skills in database analysis

• Presentation of own findings and current literature

Competencies

•  Fundamentals of the clinical discipline of Human Genetics

 • Molecular-genetic methodologies