Open science and social media were key in the discovery and growth of the NGLY1 rare disease community. Article by Seth Mnookin.
In June 2012, the Freeze Lab pioneered research into the clinical treatment of the rare disorder, N-glycanase deficiency.
On February 28, 2014, researchers and 5 NGLY1 families from across the world met for the first ever symposium on N-glycanase deficiency.