GRACE SCIENCE FOUNDATION

THE UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER (YAN LAB) Team continues work generating and characterizing several mouse models of NGLY1 Deficiency, including models in which the gene is inactivated in certain tissues and conditionally after birth. These mouse models have allowed them to characterize neurological phenotypes including neuronal loss, neuropathological changes, inflammation, sensory and motor defects, and disease associated biomarkers, all of which are also observed in NGLY1 Deficiency patients These animal models provide a foundation for testing candidate therapies, including gene therapies and small molecule drugs. The team has also found that NGLY1 Deficiency in mice triggers a specific innate immune pathway mediated by the cGAS/STING pathway. Using genetic and pharmacological approaches, the team has uncovered three different targets that can be modulated to reduce disease associated phenotypes and improve survival.

The University of North Carolina (Hantman Lab)

Charles River Laboratories

Boston Children's Hospital (Yu Lab)

Hilltop Lab Animals Inc.

Albert Einstein College of Medicine (Kaushik Lab)

Purdue University (Rochet Lab)

Pharmaron, Inc

Universitry of Utah (Chow Lab)

Standford University

University of Houston

Bioagilytix Labs

Transnetyx

Wuxi Apptec

MedChem Express LLC