Period
March 29 – April 16, 2010
Aims
The student:
has an overall understanding of the theoretical and practical features of family studies in (genetic) diseases;
has an overview and knowledge of strategies to identify genes;
has an overview and knowledge of functional assays and models for the development of treatment and prevention strategies of genetic diseases;
can convey this knowledge and views to the other students;
can implement this knowledge in the design of a written research proposal and an oral presentation about a chosen subject.
Content
This three-week course will take the student through the successive steps in the identification and characterization of the gene defect in various Mendelian and complex genetic disorders. Both fields are main research lines at the Department of Human Genetics, covering neurological and neuromuscular disorders, colon, breast and skin cancer, cardiovascular and kidney disease, and hemoglobinopathies. The relationship between the primary gene mutation and the final disease phenotype is very complex, influenced by genetic and additional environmental factors. Thus, subsequent to gene and mutation identification, the functional consequences need to be studied in various in vitro and in vivo model systems. Our main emphasis lays on transgenic and (conditional) knock-out mouse models but increasingly also other organisms like Drosophila, C. elegans and zebra fish are employed. The ultimate goal of the use of these model systems is the development of treatment and prevention strategies.
Programme:
In the first week, theoretical and practical aspects of family studies, diagnosis, linkage analysis, bioinformatics, gene identification, functional assays and model systems are discussed in lectures and self-study design.
In the second week, students participate, in couples, in ongoing disease-oriented projects at the Department of Human Genetics to get the flavour of the modern medical genetics and functional genomics work. In addition, students will be informed on how methodology discussed in the first week has resulted in state-of-the-art knowledge on various important human diseases.
In the third week, the experience gained will be used to design research proposals to be presented at the end of the week in a mini-symposium.
Competences
This course will particularly work on:
Research competences:
Defining a research question, writing a research proposal, choosing appropriate techniques.
Professional competences:
Collaborating with peers, commitment, motivation and drive, digesting other people’s opinions.
Form of tuition
Lectures, group work, self study, practicals.
Mode of assessment
Written report, oral presentation, student behaviour, research proposal.
Recommended prior knowledge
Successful completion of BM321 (How To Write A Research Proposal) is strongly recommended.
Student is assumed to be familiar with knowledge described in: Human Molecular Genetics (Strachan & Read): Chapters 4, 13, 14, 15, 16, 20, 21.