The Might family was recently featured in the summer issue of Sanford-Burnham Medical Research Institute's "Portal". It's a lovely feature on pioneering N-glycanase deficiency research through Dr. Hudson Freeze's laboratory and the Bertrand Might Research Fund.
According to the Mights, "We began funding Hud's NGLY1 research in mid-2012, and went to visit the lab shortly thereafter...
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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.
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NGLY1 Deficiency Research
In June 2012, the Freeze Lab pioneered research into the clinical treatment of the rare disorder, N-glycanase deficiency.
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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, June 29, 2014
Friday, June 13, 2014
Grace Wilsey Foundation
The Wilsey family just launched the Grace Wilsey Foundation to fund NGLY1 research and, more broadly, change the way rare diseases are researched. Kuddos, Matt and Kriste...
Thursday, June 12, 2014
NGLY1 Profile: Kaylee, age 4
Patient: Kaylee, age 4
Parents: Kelsey and Daniel
Sibling(s): Justin, age 2
Prenatal:
At about 20 weeks pregnant my OB discovered that Kaylee only had a 2 vessel chord and was a lot smaller that she should be, at the time the chord was thought to be the only reason. We monitered her...
Wednesday, June 11, 2014
NGLY1 Profile: Tim, age 3
Patient: Tim*, age 3
Parents: C and A
Sibling(s): none
"Tim" was born in June 2011 by Cesarean section at 39 weeks after fetal distress was noted. He weighed only 2.3 kg at birth - intrauterine growth restriction (IUGR) had been noted at around 34 weeks of pregnancy and a biopsy of...
Saturday, June 7, 2014
NIH CDG/NGLY1 Study - Now Recruiting!
Clinical and Basic Investigations into Known and Suspected Congenital Disorders of Glycosylation
This study is currently recruiting participants.
Summary | Eligibility | Citations | Contacts
Summary
Number
14-HG-0071
Sponsoring Institute
National Human Genome...
