As a result of technological advances in genomic sequencing, the list of unknown rare diseases has greatly increased.Today there are at least 7,000 rare diseases affecting over 700 million people worldwide. About 95% of these diseases are unfortunately untreated because they have not been thoroughly studied and the underlying pathogenic mechanisms are diverse and complex. As a result, half of the affected children have a very limited life expectancy of less than 5 years.
Alex Parker’s group is collaborating with Modelis, a Quebec-based biotechnology company, to develop a new method for identifying in vivo therapeutic indicators through omics profiling (OMICotype). Using transcriptomics and lipidomics, the team is developing a pipeline that integrates machine learning to accurately compare OMICotypes of specific diseases with those of hundreds of candidate molecules. By searching for complementary profiles, this method will provide an omics-based approach to rapidly identify candidate therapies that can be validated in vivo. The development of this pipeline will then accelerate the discovery of new drugs for rare diseases and drastically reduce the costs of preclinical studies.
Lead Genome Centre : Génome Québec
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| James | Doyle | Modelis inc. |