Next-Generation Genetics of Axonopathies (HSP/CMT genetics)
Next-Generation Genetics of Axonopathies
Date du début: 1 août 2013,
Date de fin: 31 juil. 2016
Development, maintenance and degeneration of neural processes is at the heart of a number of important neurodevelopmental and neurodegenerative diseases, including autism, Multiple Sclerosis, Alzheimer’s, and Parkinsons’s disease. Disturbances of such pathways come to a head in neurons developing and maintaining the longest axons in the nervous system. Studying axonopathies, diseases of the long axons of the nervous system, promises to understand key molecular pathways and vulnerabilities of axon health that eventually apply to all neuronal cells.To understand genetics and biology of axonopathies we will study two genetically highly heterogeneous Mendelian forms of axonopathies: Hereditary Spastic Paraplegias and Charcot-Marie-Tooth disease.Using next-generation sequencing technology we will identify novel genes causing these diseases. To this end we will produce 2.000 exomes on families with axonopathies over the next three years. In selected families the genetic analysis will be complemented by array CGH and whole genome sequencing.Novel candidate genes involved in axon degeneration will then be studied in a functional pipeline connecting several closely collaborating laboratories that use different model systems to study neurodegeneration: yeast, zebrafish, drosophila and cell culture models.Understanding the milestones of axon degeneration in these diseases holds the potential of tracing the way back to axonal function and integrity, therefore providing a chance of therapy for many so far incurable diseases.
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