Pizza ClubAlberto Noronha

25-01-2017

Biological Networks

• Metabolic• Regulatory• Signaling• Protein-Protein• Gene-Phenotype

Metabolic networks• Genome-scale metabolic reconstructions• Deriving mathematical models from these networks allow simulations

• Recon 2 – Global reconstruction of the human metabolic network• 7439 reactions• 2626 metabolites• 2140 genes

• Interface exists to interactively visualize its content integrated with omics data and simulation results

ReconMap

Google Maps for metabolism

Features

• Users may post suggestions for refinement• Connection with PD Map• Template for generation of cell-, tissue- and organ-specific maps• Extension to The COBRA Toolbox• http://vmh.uni.lu/#reconmap

Leigh Syndrome

• Mitochondrial disorders are among the most severe metabolic disorders • Multisystemic phenotypes• Diagnostic resource for mitochondrial disease• Prototype for Leigh Syndrome• Progressive neurodegenerative disorder• Basal ganglia and/or brainstem dysfunction• Usally death occurs 2 years after initial presentation

Building a gene-phenotype network

Overview of the map

Functionality

Conclusions• Combining the use of Leigh Map with WES data and metabolic testing

can help provide patients with accurate diagnoses or to direct further biochemical investigation• Addition of novel disease genes or phenotypes with relative ease• Expand to more mitochondrial diseases• Limitations in combined/advanced searches

http://vmh.life