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 and communication of information regarding treatments and cures in the real world setting.

In her opening statement, Rep. Diana DeGette (Colorado) used NGLY1 as an illustration, and goes on to ask, "What can we do to harness this [patient involvement and technology] in a much more systemic way, so that these types of communications can happen effortlessly both in the United States and with our colleagues around the world?"

Video automatically starts at Rep. DeGette's statements about NGLY1.

Learning about the benefits and risks of a drug or device does not end when the Food and Drug Administration approves, licenses, or clears the product for use in certain patients based on the evidence presented during the premarket review process. In many ways, the process is just beginning. 

Different uses for drugs and devices are being discovered constantly, many times for treatment of new conditions and diseases or for populations of patients other than for which they were initially approved. Treatment in the real world setting also provides the opportunity to learn more about both the benefits and risk profile of a drug and device for its indicated use, as well as other uses. 

Learning and data sharing regarding safety and efficacy are happening through a multitude of platforms around the globe. Dialogue regarding this enhanced learning--whether through the Internet, social networks, or other platforms--should be facilitated among doctors, patients, researchers, and scientists because the free flow of data, research, and results related to what a therapy or combination of therapies does or does not do well and in what types of patients could help advance the discovery, development and delivery cycle.

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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 science?"

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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 you!

Everyday life for The Stinchcomb's is tough. Both girls who suffer from NGLY1 do not speak, they can not walk, they wear diapers, drink formula, use wheelchairs, and need constant attention. Tony and Pam provide all of this to their girls WITHOUT ANY OUTSIDE HELP. They see that the girls' needs are met to the best of their ability. Traveling, even to the grocery store, is nearly impossible, even with their Suburban. The one single thing that could change the quality of life for this family would be handicap accessible transportation. That is our goal with this fundraiser. Helping them achieve mobility so their family can function more like an every day family!  

This family is near and dear to our hearts so I wanted to do something special for them. You can help by placing an order online anytime between now and August 15th and I will donate 25% to the Stinchcomb Family! This is a great opportunity to help this sweet family, and also get a gift for someone special (or yourself)! Don't forget Christmas, Birthdays, Teachers and special occasions! 

Order at: 
http://www.heatherm.origamiowl.com/parties/StinchcombFundraiser405289/collections.ashx

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"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 session presenters will include researchers Tadashi Suzuki, Hudson Freeze, Hamed Jafar-Nejad, as well as two NGLY1 parents!  The Super Matts: Matthew Might and Matt Wilsey.

The NGLY1 session starts at 2:45pm on Tuesday, November 18th.  These talks are sure to be thought-provoking and inspiring.

If you'll be in Honolulu, Hawaii, don't miss it!

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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 facilitate NGLY1 family-researcher interaction and provide support.

We invite everyone to join!  The page will be a public one, but we reserve the right to make it private if necessary in the future.

We will continue to promote N-glycanase deficiency, so patient families will be able to find the NGLY1 community and receive the same valuable support.

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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 patients and their families, including those yet undiagnosed: Thank you, Seth!

You can read the full article HERE.

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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 disease in an individual until recovery or death.

Knowledge of the natural history of disease ranks alongside causal understanding in importance for disease prevention and control.

Natural history studies and registries also play a critical role in the drug discovery and development process.

Standardized natural history registries, tied to tissue banking, facilitate the generation of research leads, and accelerate studies examining associations between phenotype (disease-related physical and mental characteristics) and genotype.

Patient registries represent one of the best resources to collect prevalence, demographic, natural history, and comparative effectiveness data on rare diseases.

Currently, very few rare disease patient registries exist and where they do, they are often limited in their usefulness.

The NIH, FDA, and NORD are currently in the process of building a rare disease patient registry program to ensure rare disease patients have adequate natural history information in order to spur drug discovery and development.

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