Poster BioSB 2016 Ehrhart.pdf (277.72 kB)
Poster "Pathway analysis of Rett syndrome data" BioSB 2016
Although being a rare disease, Rett syndrome (RTT) is one of the most important neurodevelopmental disorders in females. The typical symptoms are regression and loss
of acquired motor and communication skills after the first 6-18 months of normal development. RTT females are generally suffering severe intellectual disability, learning
disability, and motor impairments. Cause for RTT is a mutation in one single gene, the methyl-CpG-binding protein 2 (MECP2). MECP2 is a central signalling gene which acts as global and gene specific transcription regulator, shapes chromatin, influences alternative splicing, and epigenetic imprinting. Using systems biology approaches to reveal the
mechanism of rare diseases is highly interesting because it draws attention on the whole system instead of single endpoints. Pathway and network analysis approaches bring the experimental data together with existing knowledge e.g. a pathway databases like WikiPathways.org In this study we demonstrate the use of bioinformatics tools and
methods to visualize the changes in transcriptome of post mortem samples of superior frontal gyrex from RTT females and controls.
This poster was presented at the BioSB conference in Leiden (NL), 2016.
of acquired motor and communication skills after the first 6-18 months of normal development. RTT females are generally suffering severe intellectual disability, learning
disability, and motor impairments. Cause for RTT is a mutation in one single gene, the methyl-CpG-binding protein 2 (MECP2). MECP2 is a central signalling gene which acts as global and gene specific transcription regulator, shapes chromatin, influences alternative splicing, and epigenetic imprinting. Using systems biology approaches to reveal the
mechanism of rare diseases is highly interesting because it draws attention on the whole system instead of single endpoints. Pathway and network analysis approaches bring the experimental data together with existing knowledge e.g. a pathway databases like WikiPathways.org In this study we demonstrate the use of bioinformatics tools and
methods to visualize the changes in transcriptome of post mortem samples of superior frontal gyrex from RTT females and controls.
This poster was presented at the BioSB conference in Leiden (NL), 2016.
