Unmet Need:
Every year, approximately 6,000 children are born with Down syndrome worldwide (see CDC). Down syndrome is ubiquitously associated with cognitive delays, and sometimes accompanied by additional neurological defects (see NDSS). Unfortunately, little is known about how these cognitive deficits arise. Some studies suggest that sonic hedgehog (SHH) signaling may play a role (see Neuroscience). However, a lack of SHH animal models has precluded in-depth study of site-specific SHH signaling and its effects. Study of human SHH signaling in animal models could reveal its link to Down syndrome associated neurological symptoms. Therefore, there is a strong need for the development of a spatially resolved human SHH animal model that may elucidate the mechanisms leading to neurological defects.
Technology Overview:
Researchers at Johns Hopkins have generated a knock-in mouse model with inducible human SHH expression. The model simultaneously expresses SHH and a fluorescent marker that powerfully enables spatial and temporal resolution of expression. Such resolution further enables brain region-specific study of SHH signaling effects.
Stage of Development:
The inducible human SHH knock-in mouse model has been fully developed.
Publication:
Gao FJ, et al. Acta Neuropathol Commun 9, 137, 2021
