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Pizza Club
Alberto 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

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Pizza club - January 2017 - Alberto

  • 2. Biological Networks • Metabolic • Regulatory • Signaling • Protein-Protein • Gene-Phenotype
  • 3. 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
  • 5. Google Maps for metabolism
  • 6. 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
  • 7. 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
  • 10.
  • 12.
  • 13. 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