Successful completion of 3120321PPY (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.
Period: 10 January 2022 - 4 January 2022
This four-week course will take you through the successive steps in the identification and characterization of the gene defect(s) in various Mendelian and multifactorial disorders. Both fields are main research lines at the Department of Human Genetics, covering neurological and neuromuscular disorders, breast cancer, metabolic syndrome, genetic immune disorders, cardiovascular and kidney disease, and hemoglobinopathies.
Much emphasis is given to the functional consequences of mutations in DNA on RNA, proteins, and metabolites. Thus, subsequent to gene and mutation identification, the functional consequences need to be studied in various in vitro and in vivo model systems. Models based on induced pluripotent stem cells (iPSC), transgenic and (conditional) knock-out mice, but also other organisms, such as Drosophila and C. elegans will be discussed.
The ultimate goal of the functional studies is the identification of disease mechanisms and targets for the development of treatment and prevention strategies. Different therapeutic (genetic) intervention strategies are under investigation and/or being tested in clinical trials.
The flow of the course is as follows:
In the first part of the course, a thorough theoretical overview of the various steps in DNA analysis and functional characterization of pathogenic variations is given. Important issues such as the collection and diagnosis in families and populations with a genetic disease, modern (genome-wide) gene identification strategies (Next Generation Sequencing), genome-editing (CRIPR/Cas), functional assays, bioinformatics, model systems and therapeutic strategies will be discussed in lectures, demonstrations and self-study assignments.
In the second part of the course, students will participate, in couples, in ongoing disease-oriented projects at the Department of Human Genetics to get the flavor of the modern medical genetics and functional genomics work. In addition, students will be informed on how methodology discussed in the first weeks has resulted in state-of-the-art knowledge on various important human diseases. The experience gained will be used to design research proposals to be presented at the end of the week in a mini-symposium.
This course will particularly work on:
Defining a research question, writing a research proposal, choosing appropriate techniques
Collaborating with peers, commitment, motivation and drive, digesting other people’s opinions
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.
All course and group schedules are published on our LUMC scheduling website or on the LUMC scheduling app.
Mode of Instruction
Student behavior (motivation, independency, oral reporting, participation in discussion)
The research proposal
The student’s oral presentation of his assignment during a plenary session with all course participants
Registration for FOS courses, H2W, Scientific Conduct, Course on Lab Animal Sciences and CRiP takes place in lottery rounds in the beginning of July. After the lottery rounds: if you want to register for a course you are kindly asked to contact the student administration at firstname.lastname@example.org.
This course will be given in parallel with the course: ‘From genetic disease to functional genomics’. A substantial number of lectures will be given for the combined group.