Admission requirements
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.
Description
Period: 8 January 2024 - 2 February 2024
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, cancer, metabolic syndrome, genetic immune disorders, cardiovascular and kidney disease, and hemoglobinopathies. Much emphasis is given to the functional consequences of pathogenic variants in DNA RNA, proteins and metabolites. An introduction will be given how the analysis of big -omics datasets will give further insight into these processes. Subsequent to gene and pathogenic variant 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 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 and will be discussed.
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 and the analysis of large datasets, model systems and therapeutic strategies will be discussed in lectures, demonstrations, self-study assignments and master-classes.
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:
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
Course objectives
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.
Timetable
All course and group schedules are published on MyTimeTable.
The exam dates have been determined by the Education Board and are published in MyTimeTable.
It will be announced in MyTimeTable and/or Brightspace when and how the post-exam feedback will be organized.
Mode of Instruction
Lectures
Working classes
Self-study assignments
Assessment method
Student behavior (motivation, independency, oral reporting, participation in discussion)
Gene information assessment
The research proposal
The student’s oral presentation of his assignment during a plenary session with all course participants
Reading list
Registration
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 masterbms-courses@lumc.nl.
Contact
Remarks
During the course students have the opportunity to choose topics that fit with the master Neurotrack.