Reconstruction and Computational Modelling for Inherited Metabolic Diseases
Accelerating the diagnosis and personalising the management
of inherited metabolic diseases.
Key features of Recon4IMD
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Overall objectives: Accelerate diagnosis and personalise management of inherited metabolic diseases.
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Primary output: Clinically validated decision support tools enabling accelerated diagnosis and personalised management of inherited metabolic diseases, based on genomic, proteomic, and metabolomic data-driven computational models.
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Sustainability: Development of academic technology to meet medical regulatory standards and a roadmap for exploitation within a European foundation to aid personalised diagnosis and management of inherited metabolic diseases.
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Implemented by: A group of world-class scientists and clinicians from a diversity of disciplines who have collaborated multiple times and have a track record of leading key national and EU-funded initiatives to deliver high-impact results.
Latest Publications
Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis
Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the GBA1 gene, leading to deficient glucocerebrosidase activity and accumulation of glucosylceramide in macrophages. Beyond lysosomal dysfunction, GD is associated with widespread metabolic abnormalities, yet the molecular basis of these changes remains incompletely understood.
