The aim of this course is to provide a comprehensive overview of exciting developments in neurogenetics research and the molecular and cellular mechanisms that are disrupted in disorders that affect the nervous system.
After this course you will be able to:
- Describe the complete range of monogenetic defects that result in neurodevelopmental disorders.
- Chose the right research strategy to locate genetic factors and pathways that are involved in monogenetic and multifactorial neurodevelopmental disorders.
- Describe the epigenetic modifications that affect learning, memory, and behavior and discuss transgenerational epigenetic inheritance.
- Chose an animal to model neurodevelopmental disorders and specify the optimal test to deduce the effect of dysfunctioning of specific genes and pathways on human learning, memory, and behavior.
- Apply the principles of neurophysiology to study synaptic plasticity in rodent models for neurodevelopmental disorders.
- Write an argumentative, well-organized project proposal to study the genetic origins of a neurodevelopmental disorder including a description of its’ impact on society.
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Neurological disorders will be discussed which represent a variety of inheritance patterns and types of molecular genetic investigations. Examples include, X-linked and autosomal forms of intellectual disability, psychiatric conditions with complex inheritance, genetics of speech, epigenetic defects in neurological disease. The course starts with a few introductory lectures to introduce some basic genetic principles and methodologies, and then takes the form of weekly "journal clubs" that address specific neurological disorders. Later sessions of the masterclass will focus on molecular and cellular neurobiological mechanisms that are affected by mutations and research strategies that are used to unravel these: generation and characterization of model organisms (rodents, Drosophila), cellular studies and neurophysiology. Topics include:
- Basic Molecular Genetics: Genes and chromosomes, inheritance patterns, linkage studies, genome projects (van Bokhoven, de Brouwer).
- High Throughput genomics, chromosomal disorders, CNVs and the plastic genome (van Bokhoven)
- Mendelian disorders and special forms of inheritance (van Bokhoven, de Brouwer)
- Multifactorial disorders of the brain, Quantitative Neurogenetics (Arias Vasquez)
- Genetics of intellectual disabilities, autism spectrum disorder, ADHD, and schizophrenia (van Bokhoven, Arias Vasquez)
- Genetics of speech (Fisher/Eising).
- Imaging genetics (Bralten)
- Epigenetic defects underlying neurological disorders (van Bokhoven).
- The genetic toolbox to generate tailor-made rodent models. Behavioral phenotyping (van der Werf, van Bokhoven, Nadif Kasri).
- Synaptic plasticity in rodent models for neurogenetic disorders (Nadif Kasri)
- Generation and characterization ofDrosophilamodels for neurodevelopmental and neurodegenerative disorders (Fenckova).
- Development of novel therapeutic strategies (van Bokhoven)
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