Coordinator of Practical Activities
Prof. Claudio Orlando
Clinical Biochemistry Unit, Department of Clinical Physiopathology, University of Florence

Recent advances have demonstrated that the term “simple trait” applied to human mendelian diseases is a misnomer. The phenotype of individuals affected by mendelian conditions is determined by a number of variables, including the nature of the main causative mutation(s), the presence of variants at modifier loci, and, likely, also exposure to environmental modulators. Progress in unravelling the complexity of mendelian traits is an important step in our understanding of the bases of highly complex multifactorial conditions, that make up the major burden of human disease. While the nature and role of the genetic factors underlying multifactorial diseases has yet to be discovered, rapid progress in their elucidation is likely to stem from recent technical and scientific advancements. Improved knowledge will also increase the potential for clinical applications. This will require careful assessment of the clinical usefulness of the novel molecular genetic tests.

The formal sessions of the course will address the following topics:

1. Genetic and allelic heterogeneity in groups of common mendelian conditions
2. Methodological approaches for the detection of human DNA sequence variants involved in multifactorial conditions
3. Potential advantages and limits of their application in the clinical setting.
4. Quality Control Programs in Molecular Genetics

Questionnaire

Closing Remarks