Epigenetics, imprinting, uniparental disomy, haplo-insufficiency, dominant negative, gain-of-function, triplet repeat, genomic disorders, single nucleotide polymorfismes, non-mendelian inheritance, farmacogenetics, gene-therapy

In this course we will focus on new insights in the genetic basis of human disease. In addition to classic nucleotide changes in the coding region of genes, positional and epigenetic effects gain increasing importance. This course discusses state-of-the-art research papers that will provide recent insights in new genetic mechanisms at the basis of human disease. Other topics include new molecular genetic analysis techniques, recent insights in the pathogenetic mechanisms and the therapeutic applications. Special attention is paid to the role of genetics in the development of new therapeutic strategies. Students will gain insight in diverse aspects of human genetics of the 21st century.

Following topics will be covered:

1. Epigenetics and imprinting

2. DNA methylation en histonacetylation

3. MicroRNA and other non protein coding RNAs

4. Disease mechanisms (haplo-insufficiency, dominant negative, gain-of-function, triplet repeat)

5. Genomic disorders (recurrent deletions)

6. Long range regulation of transcription, conserved non-genic sequences

7. Non-mendelian inheritance/pedigree analysis

8. Complex inheritance

9. Mitochondrial genetics

10. Pharmacogenetics

11. Gene therapy

Having successfully completed the courses Human genetics, Molecular biology I, Molecular Biology II and Human pathogenesis from the bachelor program biomedical sciences, or having acquired the relevant ending objectives by other means.

• To gain new insights in the most actual developments of gene discovery, pathogenetic mechanisms and therapeutic strategies of human genetic conditions.
• To be able to critically read and discuss scientific papers concerning gene discovery, pathogenic mechanisms and therapeutic strategies.

Dutch syllabus, completed with scientific papers (english) and slides available via Minerva.

• Voornamelijk state-of-the-art artikels.

Interactive support via questions and answers during lectures and by email and Minerva.

Classroom lectures;

Evaluation during examination period

During examination period: written closed-book exam