|By the end of this course, the student will: |
- be able to describe key characteristics of major developmental disorders affecting speech, language and reading, including speech apraxia, specific language impairment and dyslexia
- appreciate the complexity of the genetic architecture underlying these disorders, ranging from rare point mutations and chromosomal rearrangements, through to common polymorphisms
- understand the relative strengths and weaknesses of complementary genetic methods of linkage and association, and how they have been used to identify genes implicated in rare and common language-related disorders
- have a robust appreciation of the endophenotype approach, in particular the coupling of neuroimaging and genetic data for gaining insights into human language-related traits
- display solid knowledge of the main techniques that are used to study molecular functions of language-related genes, and relevant mutations, using cell-based systems
- be able to describe how genetic manipulation in animal models can trace links between language-related genes and the development/function of neural circuits
- apply the knowledge and understanding from the course to specific examples of genes of interest, such as FOXP2 and CNTNAP2, and place them in a broader evolutionary context
- be able to critically evaluate the potential impact of new developments, such as next-generation sequencing, for the future of the field.
A small but significant proportion of children have unexplained difficulties acquiring language and/or reading skills, in absence of obvious causes. Convergent advances in genomics and neuroscience are enabling researchers to pinpoint genetic risk factors implicated in speech disorders, specific language impairment and dyslexia. Students will develop an appreciation of how diverse cutting-edge techniques are brought together to reveal novel insights into the underlying biology of these important disorders, and will thereby understand how we can begin to bridge genes, neurons, brains and cognition. The course is given by internationally leading figures that helped pioneer this exciting new field.|
The following topics will be covered:
- Introduction to the language sciences, with an overview of biological approaches for studying speech, language and reading. Characteristics, diagnostics and prevalence of relevant neurodevelopmental disorders
- Rare Mendelian forms of speech, language and reading disorders. Identification of genes including FOXP2, ROBO1, through parametric linkage analysis and analyses of chromosomal rearrangements
- Common multifactorial disorders, including dyslexia and specific language impairments. Discovery of genes like KIAA0319, ATP2C2, CMIP through quantitative trait linkage and targeted association. Genome-wide association scans for reading- and language-related measures
- Language endophenotypes. Genetics of functional and structural brain asymmetries, and relationship with neurodevelopmental disorders
- Functional genomics of mutations implicated in speech and language disorders. Defining key gene networks by integrating expression profiling, chromatin immunoprecipitation, reporter gene assays etc.
- Using animal models to study neural functions of language-related genes. Bridging molecules, neurons and neural circuits, illustrated by FoxP2 and other genes in mice, bats and birds
- Future perspectives. The impact of next-generation sequencing, neuroimaging genetics and cellular models for studying speech and language disorders
|Attendance at the lectures is strongly recommended|
|There will be a written exam at the end of the course, testing for robust understanding of each of the topics covered|
|Bachelor level Medical Biology, Neurobiology, Molecular Life Sciences (or equivalent) is required. Basic understanding of Neuroscience and Behaviour would be beneficial.|
• A full list of suggested reading will be provided at the start of the course.
• Key scientific articles, review papers and chapters will be made available as pdfs on Blackboard before each lecture.
• In addition, a pdf of the relevant PowerPoint presentation will be uploaded to Blackboard at the end of each lecture
• 16 hours lecture
• 68 hours individual study period
|In addition, a pdf of the relevant PowerPoint|
|Key scientific articles, review papers and chapters will be made available as pdfs on Blackboard before each lecture|
|Wordt nader bekendgemaakt|
|A full list of suggested reading will be provided at the start of the course.|
|Gelegenheden||Blok KW3, Blok KW4|