nl en

Translational Neurogenetics


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.


Period: January 4 – 22, 2016

Neurogenetic diseases form a major medical, personal and societal burden in the population. Many of the diseases show an early onset, while we see a steep increase in various neurodegenerative disorders in the ageing population. In Leiden, there are several strong clinical-molecular research groups working on episodic (e.g. migraine, stress/depression), neurodegenerative (e.g. Huntington, Parkinson, Alzheimer) and neuromuscular (e.g. Duchenne, FSHD) diseases. These collaborative networks provide unique opportunities for translational research “from bench to bedside – and back”. In this course, much emphasis is given to the functional consequences of the mutations in the DNA (i.e. genotype) – on the RNA, protein and metabolite level (i.e. phenotype). Thus, subsequent to gene and mutation identification, their functional consequences need to be studied in various in vitro and in vivo model systems. Our main emphasis will be on transgenic and (conditional) knock-out mouse models. These models are studied with cutting edge molecular, (electro)physiological, behavioural and imaging techniques. How knowledge of genetic and functional studies can lead to the identification of targets for the development of therapeutical strategies 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 gene discovery and functional characterization is given. Important issues such as collection and diagnosis of families and populations with a neurogenetic disease, modern (genome-wide) gene identification strategies, functional assays and model systems are discussed in lectures, demonstrations and self-study assignments.
In the second part of the course, students participate in ongoing disease-oriented projects to get a better insight in modern translational neurogenetics research. Specific emphasis is given to the complex neurobiological processes at the basis of the observed clinical phenotype in patients and mouse models. Finally, 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:

  • Will be able to explain the inheritance pattern and molecular and clinical epidemiology of rare and common neurological diseases and traits.

  • Can outline the molecular pathways leading to disease phenotype.

  • Can explain how the complex interactions of genes and environment results in disease expression

  • Can describe how intervention targets are identified for therapy based on molecular genetic studies.

  • Has a basis understanding how to design study protocols for the molecular dissection of neurogenetic disorders and the design of intervention strategies.


-Student behaviour (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