PF19: Genetics Question 5

For complex pancreatic disease MODELS, how shall each animal model, cell culture model, omics analysis pipeline, or computational model be defined and associated with complex clinical disease mechanisms?

Chairs: Jami Salomon PhD and TBA.

Delegates: Brandon Blobner PhD, Eszter Hegyi MD PhD (contact Dr Whitcomb or Sahin-Toth to be added)

Considerations: Mechanistic pathways (trypsin, misfolding, ductal) are typically defined based on pathogenic variants with strong effects and strong evidence. Variants with weaker effects or lower levels of evidence could then matched to one these pathways.

2 Replies to “PF19: Genetics Question 5”

  1. PMID: 31206467 is a review that was published yesterday including a list of animal models available and could be a resource for identifying specific models that would be useful for modeling the contribution of variants connected with specific mechanistic pathways.

  2. It is great to see that the paper cited by Jami is already outdated as new and exciting models have been published since Pancreasfest 2018. With modeling genetic variants in mice becoming more affordable (both time and cost), more and more preclincal models are expected to emerge in the near future. These should be utilized to define (actually to better define) mechanistic pathways and also to define variant pathogenicity. Guidelines may be needed on how to characterize and publish these new models to avoid the recent Gut fiasco where the new SPINK1 mouse model paper included a total of 1 sick mouse.

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