The Grace Wilsey Foundation has put together a fantastic video!
Rare is not an excuse:
Please shar...
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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.
Monday, November 24, 2014
Sunday, November 9, 2014
2nd World Conference on Congenital Disorders of Glycosylation for Families and Professionals
Lyon, FRANCE
August 29 - 30, 2015
The CDG Community is planning “The 2nd World Conference on Congenital Disorders of Glycosylation for Families and Professionals: a challenging story of sugar trees”, early in advance. Due to relevant operational reasons, getting a detailed tentative agenda is of...
Saturday, November 8, 2014
NGLY1 Deficiency Video
The Grace Wilsey Foundation has created an informational video to answer the question: "What is NGLY1 Deficiency?"
Please share with all those whom might be interested:
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Saturday, October 25, 2014
Dr. David Goldstein to direct Institute for Genomic Medicine at Columbia University
NEW YORK (September 23, 2014) — David Goldstein, PhD, will join Columbia University as professor of genetics and development in the College of Physicians and Surgeons and director of a new Institute for Genomic Medicine in partnership with NewYork-Presbyterian, effective January 1, 2015. Dr. Goldstein...
Monday, August 25, 2014
NGLY1 Profile: Grace, age 4
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
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...
Thursday, July 24, 2014
US Congress hears about NGLY1
On Tuesday, July 22, 2014, at 3:00 p.m. in 2322 Rayburn House Office Building, the Subcommittee on Health held a hearing entitled “21st Century Cures: Examining Barriers to Ongoing Evidence Development and Communication.” This hearing focused on issues surrounding continued evidence development...
Wednesday, July 23, 2014
Boston Public Radio covers NGLY1
Boston Public Radio 07/21/2014
The segment on NGLY1 starts at 1:36:39.
Seth Mnookin, a professor in the MIT graduate program in science writing, talked about his new piece in The New Yorker titled "One of a kind: What do you do if your child has a condition that is new to scien...
Monday, July 21, 2014
Benefit for Jordan & Jessie
The following is a fundraiser to improve the quality of life for one of our beautiful NGLY1 families by helping them purchase a handicap accessible van capable of transporting both of their daughters.
If anyone is interested in simply donating directly to this family, please let us know. Thank...
Saturday, July 19, 2014
"Integrating Glycoscience"
This upcoming November 2014 at the annual joint meeting for the Society of Glycobiology and the Japanese Society for Carbohydrate Research, there will be an entire session dedicated to NGLY1!
The theme for the conference is "Integrating Glycoscience From Biology and Chemistry to Medicine".
NGLY1...
Friday, July 18, 2014
NGLY1.org Facebook Launch
In 2012, we launched NGLY1.org as a resource to clinicians, a means of finding new N-glycanase (NGLY1) deficiency patients, and a way to support their families.
Yesterday, thanks to the rapidly growing NGLY1 community, we launched the NGLY1.org page on Facebook to...
Tuesday, July 15, 2014
NGLY1 in "The New Yorker"
Journalist Seth Mnookin dedicated over two years to research and chronicle the discovery of N-glycanase deficiency and the growth of the NGLY1 community.
It is an honor to have an ultra-rare disease brought to public attention with such compelling and thorough reporting.
On behalf of all NGLY1...
Monday, July 14, 2014
What is a "Natural History of Disease"?
The NIH Campus in Bethesda, Maryland, USA.
The National Institutes of Health (NIH) is currently enrolling N-glycanase (NGLY1) deficiency patients into a study of the natural history of the disease.
The natural history of disease refers to a description of the uninterrupted progression of a...
Sunday, July 13, 2014
NIH NGLY1 Study Experience
Bertrand with NIH study coordinators, Lynne Wolfe and Christina Lam.
In June 2014, the National Institutes of Health saw the first NGLY1 patient as part of it's CDG Protocol. This study is a valuable instrument for understanding N-glycanase deficiency, and developing a natural history of the...
Tuesday, July 1, 2014
NIH names new clinical sites in Undiagnosed Diseases Network
David Goldstein and Vandana Shashi, who headed up the team at Duke that discovered N-glycanase deficiency, will also be heading up one of the sites for the Undiagnosed Diseases Network (UDN). The UDN is a large step forward for undiagnosed patients everywhere. We are hopeful...
Sunday, June 29, 2014
Parental Might
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...
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...
