New horizons in the understanding of hereditary neuropathies – screening the genome for causative genes and gene mutations

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To identify the underlying genetic cause is crucial for the understanding of pathomechanisms and the development of treatment. Hereditary neuropathies comprise a wide variety of disease patterns, which all share a progressively disabling course. With the intention to identify new causative and modifier genes by analyzing whole genome and transcriptome data, the applicant aims to become an expert of the "big data" sequencing approach within the frame of a two-year post-doctoral research fellowship.After the great success of the whole exome sequencing approach, the role of non-coding variation including repeat expansions has yet to be further focused on, especially since the current diagnostic gap of ~50% for all axonal forms of hereditary neuropathies hinders clinical progress and ultimately the application of future precise genetic therapies. In the present project, the applicant will evaluate sequencing data established at the John P. Hussman Institute for Human Genomics at the University of Miami, Florida, using elaborate bioinformatic tools and databases to filter for novel genes and gene mutations in hereditary neuropathies. The project focusses on novel genomic regulatory variants and assesses their effect on protein expression in tissue-specific transcriptomes. It will lead to a collaborative network with the US and German partners and involved individuals and fosters the transfer of specialized knowledge and sharing of resources.