• 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.

Monday, August 25, 2014

NGLY1 Profile: Grace, age 4

Monday, August 25, 2014   No comments
Patient: Grace, age 4 Parents: Kristen and Matt Sibling(s): none History Grace was delivered via emergency Caesarean section at Lucile Packard Children’s Hospital at Stanford in 2009. The doctors hit the “crash” button because of decreasing fetal heart rate. Grace's Apgars were 4 at 1 minute...

Monday, August 18, 2014

NGLY1 Profile: Mason, age 5

Monday, August 18, 2014   1 comment
Patient: Mason, age 5 Parents: Sara and Mark Sibling(s): none Mason is five years old and was born at 34 weeks via emergency C-section because of bradycardia episodes, he was measuring small and my fluid level was dangerously low. He was a relatively 'normal' preemie, staying in the NICU...