Chromosomes, inheritance, mutation, disease genes, common disorders, mitochondrial diseases, familial cancer

Overview of the current state of the art of "Human Molecular Genetics" with particular reference to genetic diseases. Focus will be on the impact of the completion of the human genome sequence on areas of chromosome research, Mendelian genetics, mitochondrial inheritance and multifactorial inheritance.

Modes of inheritance: a molecular point of view. One gene and several diseases versus one disease and many genes. Identification and study of disease genes. Genetics of common disorders. Mitochondrial diseases. Mutations and DNA repair. Genomic imprinting and genetic diseases. Molecular pathology of genetic disorders (loss and gain of function, mutations, epigenetic modifications, basis of single gene disorders, expanding repeats, modifier genes. Transcription factors in genetic disorders. Molecular basis of chromosomal disorders. Understanding genetic disorders using animal models.

Previous education in the life sciences equivalent with the level of Master of Science in Biochemistry and Biotechnology, specifically.

Knowledge of general principles and new insights in the domain of human molecular genetics.

Book Human Molecular Genetics, Tom Strachan and Andrew P. Read, 2nd Ed. 1999 , BIOS Scientific Publishers Ltd, Notes, schemes and figures, PDF extracts from the recent literature
approx 60 euro

Book Human Molecular Genetics, Tom Strachan and Andrew P. Read, 2nd Ed. 1999 , BIOS Scientific Publishers LtdSyllabus

Prof. Erik Remaut, chairman of the Educational Comittee Molecular Biotechnology, is the contact person for general study coaching.

Lectures

Permanent interaction with the students, and final exams

Written and oral examination