• NGLY1 in The New Yorker!

    Open science and social media were key in the discovery and growth of the NGLY1 rare disease community. Article by Seth Mnookin.

  • NGLY1 Deficiency Research

    In June 2012, the Freeze Lab pioneered research into the clinical treatment of the rare disorder, N-glycanase deficiency.

  • NGLY1 Families Connect

    On February 28, 2014, researchers and 5 NGLY1 families from across the world met for the first ever symposium on N-glycanase deficiency.

Sunday, May 4, 2014

NGLY1 Profile: Bertrand, age 6

Sunday, May 4, 2014   No comments
Patient: Bertrand, age 6 Parents: Cristina and Matt Sibling(s): Victoria and Winston (unaffected) Bertrand was born full-term via natural delivery. His birth weight was a surprising 5 lbs. 12 oz. (an earlier ~36 week ultrasound had his birth weight estimated at 8.5 lbs). He suffered from jaundice...

Thursday, May 1, 2014

NGLY1 Benefit for Jordan & Jessie

Thursday, May 1, 2014   No comments
The community of Jackson County, Georgia, USA is rallying around one of our amazing NGLY1 families: the Stinchcombs! The Stinchcombs have one son and three daughters. Two of their daughters have recently been diagnosed through genetic testing they both suffer from the same very rare mutation in...