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Identification and characterization of novel causal genes for autosomal recessive Charcot-Marie-Tooth neuropathies.
My project aims at better understanding of the molecular basis of autosomal recessive Charcot-Marie-Tooth (ARCMT) by the identification of novel causative genes. To this end, exome sequencing and bioinformatics are combined with intra- and inter-familial homozygosity mapping, haplotype sharing and linkage analyses. I am studying a large collection of nuclear ARCMT families with documented consanguinity and/or geographic or ethnic clustering, facilitating the gene hunting efforts. The novel genes may unravel novel pathomechanisms of neurodegeneration or strengthen the importance of already known ones, will create opportunities for improved molecular diagnostics, prognosis and disease prevention and possibly will pinpoint potential drug targets for treatment.
Date:1 Oct 2016 → 30 Nov 2018
Keywords:EXOME SEQUENCING, ARCMT, GENES, NEURODEGENERATION
Disciplines:Genetics, Systems biology, Molecular and cell biology, Neurosciences, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing