Reconstruction and Computational Modelling for Inherited Metabolic Diseases
Accelerating the diagnosis and personalising the management
of inherited metabolic diseases.
Key features of Recon4IMD
Overall objectives: Accelerate diagnosis and personalise management of inherited metabolic diseases.
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.
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.
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.
News & Events
Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders
Here, we demonstrate the effectiveness of combining genomics, transcriptomics, and, for the first time, proteomics and phenotypic descriptors, in a systematic diagnostic approach to discover the genetic cause of mitochondrial diseases.