Mouse models as a tool for discovering new neurological diseases

Neurobiology of Learning and Memory
Qiumin Tan, Huda Y Zoghbi

Abstract

Animal models have been the mainstay of biological and medical research. Although there are drawbacks to any research tool, we argue that mice have been under-utilized as a tool for predicting human diseases. Here we review four examples from our research group where studying the consequences of altered gene dosage in a mouse led to the discovery of previously unrecognized human syndromes: MECP2 duplication syndrome, SHANK3 duplication syndrome, CIC haploinsufficiency syndrome, and PUM1-related disorders. We also describe the clinical phenotypes of two individuals with CIC haploinsufficiency syndrome who have not been reported previously. To help bring biological insights gained from model systems a step closer to disease gene discovery, we discuss tools and resources that will facilitate this process. Moving back and forth between the lab and the clinic, between studies of mouse models and human patients, will continue to drive disease gene discovery and lead to better understanding of gene functions and disease mechanisms, laying the groundwork for future therapeutic interventions.

Citations

Aug 29, 2019·International Journal of Molecular Sciences·Elisa Borghi, Aglaia Vignoli
Jan 27, 2019·Nature Reviews. Drug Discovery·Joseph H Nadeau, Johan Auwerx
Feb 9, 2021·Frontiers in Genetics·Katrina V GoodJuan Ausió
Jun 5, 2021·Scientific Reports·Brenna HouriganQiumin Tan

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