GWAS, Regeneron and Geisinger, and liver disease
Genome wide association studies (GWAS) look at broad populations for gene variants associated with a particular phenotype. Often, like in Type II diabetes, one finds hundreds of genes correlated with disease, and that’s obviously not very helpful. In lucky cases there are only a few variants, and that gives clues on potential underlying mechanisms of disease. But for the very lucky, there is a jackpot which is finding a variant that is actually protective against the disease – this is what happened with PSCK9. It’s as good as one can imagine in defining a drug target because in a way nature, has given us a proof of concept.
The Geisinger-Regeneron collaboration aims to sequence 100,000 patients of the Geisinger health system and use their EHRs to correlate the genomic findings with detailed medical history. In a study focused on a biomarker of liver injury, the Geisinger-Regeneron collaboration detected a specific genetic variant (in gene HSD17B13) that appears to be protective against progression to chronic liver disease, both in the alcoholic and non-alcoholic (i.e. NASH-type) setting. Patents have been filed, drug discovery programs launched, and Regeneron is now in an advantaged position to address a market which represents a major unmet need. A question: there are about 30 biopharma companies larger than Regeneron, and about 90 US health systems larger than Geisinger – are they properly leveraging these types of opportunities? A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease (subscriber access)
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