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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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 disorder.  The NIH is still enrolling participants.  Interested parties should contact Lynne Wolfe.

The following links provide an overview of the study experience from the patient/family perspective:

NIH Schedule

NIH Day 1

NIH Day 2

NIH Day 3

NIH Day 4

NIH Day 5

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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 that many families will soon be getting answers thanks to dedicated researchers like Drs. Goldstein and Shashi.

Bethesda, Md., Tues., July 1, 2014 - The National Institutes of Health has awarded grants to six medical centers around the country to select from the most difficult-to-solve medical cases and together develop effective approaches to diagnose them. The clinical sites will conduct clinical evaluation and scientific investigation in cases that involve patients with prolonged undiagnosed conditions. Each clinical site will contribute local medical expertise to the NIH Undiagnosed Diseases Network (UDN). The network includes and is modeled after an NIH pilot program that has enrolled people with intractable medical conditions from nearly every state, the District of Columbia and seven foreign countries. The network builds on a program at the NIH Clinical Center in Bethesda, Md., that for the past six years has evaluated hundreds of patients and provided many diagnoses, often using genomic approaches, for rare conditions. 

"Newly developed methods for genome sequencing now provide us amazingly powerful approaches for deciphering the causes of rare undiagnosed conditions," said Eric D. Green, M.D., Ph.D., director of the National Human Genome Research Institute. "Along with robust clinical evaluations, genomics will play a central role in the UDN's mission." Dr. Green and Story Landis, Ph.D., director of the National Institute of Neurological Diseases and Stroke, co-chair the UDN working group. 

Undiagnosed diseases are conditions that even skilled physicians cannot diagnose despite extensive clinical investigation. They may not be recognized by doctors because they are rarely seen, are previously undescribed, or are rare forms of more common diseases. 

The NIH Common Fund awarded four-year grants of approximately $7.2 million (pending available funds) to each of the six medical centers around the country. James M. Anderson, M.D., Ph.D., director of the NIH Division of Program Coordination, Planning, and Strategic Initiatives (DPCPSI), announced in an NIH telebriefing that the six newly awarded sites join a clinical site already established at NIH in pursuing cutting-edge diagnoses. In addition, this past December, NIH selected Harvard Medical School as the UDN Coordinating Center for the multi-institution network. "The NIH Undiagnosed Diseases Network has the potential to transform medicine and serve as a catalyst for new discoveries," said Dr. Anderson. "It is an ideal NIH Common Fund program-the only one focused on diagnoses of rare disorders." 

The following institutions were awarded grants to establish UDN clinical sites:

• Baylor College of Medicine, Houston; Principal Investigator: Brendan H.L. Lee, M.D., Ph.D.

• Boston Children's Hospital, Brigham and Women's Hospital, and Massachusetts General Hospital, Boston; Principal Investigator: Joseph Loscalzo, M.D., Ph.D.

• Duke University, Durham, North Carolina; Principal Investigators: David B. Goldstein, Ph.D, and Vandana Shashi, M.D.

• Stanford University, Stanford, California; Principal Investigators: Euan A. Ashley, M.D., D.Phil., Jonathan Bernstein, M.D., Ph.D., and Paul Graham Fisher, M.D.

• University of California, Los Angeles; Principal Investigators: Katrina M. Dipple, M.D., Ph.D., Stanley Nelson, M.D., Eric J. Vilain, M.D., Ph.D., and Christina Palmer, C.G.C., Ph.D.

• Vanderbilt University Medical Center, Nashville; Principal Investigators: John H. Newman, M.D., and John A. Phillips, III, M.D.   

"This type of program can invigorate a medical center anywhere in the country and in the world," said William A. Gahl, M.D., Ph.D., clinical director at the National Human Genome Research Institute (NHGRI), director of the NIH-based Undiagnosed Diseases Program (UDP) and co-coordinator of the UDN working group. "Often, patients have a lot of physical complaints and no objective diagnoses. Our goal is to use the latest tools to make a diagnosis that spans the clinical, pathological and biochemical spectrum to uncover the basic genetic defect." Since 2008, the UDP has explored this fascinating area of medical research and acquired practical insights in the process of enrolling approximately 600 undiagnosed children and adults in its clinical protocols. The multidisciplinary clinical and research team diagnosed approximately 100 patients (20-25 percent of those evaluated), discovered two unknown diseases and identified 15 genes not previously associated with any other human disease. A combination of genomic and clinical analyses contributed to the diagnoses. 

By including an additional six clinical sites, the NIH UDN will both draw upon the unique expertise of new clinical research groups and cultivate opportunities for collaboration among a larger group of expert laboratory and clinical investigators. Physicians within the network will collect and share high-quality clinical and laboratory data, including genomic information, clinical observations and documentation of environmental exposures. They also will benefit from common protocols designed to improve the level of diagnosis and care for patients with undiagnosed diseases. 

 "The UDN will look at diseases across all clinical specialties using new tools and methods of analysis for the identification of new diseases," said Anastasia L. Wise, Ph.D., a program director in NHGRI's Division of Genomic Medicine and co-coordinator of the UDN working group that oversees the development and implementation of the UDN. "The network will facilitate collaboration and shared use of genomic tools among the sites." Based on the NIH UDP experience, the UDN Coordinating Center at Harvard Medical School has begun paving the way for the new UDN clinical sites to begin accepting patients. Among the coordinating efforts are the preparation of draft protocols and operating guidelines, and the definition of an initial framework of common practices across the network. The network will share systems for data collection and develop common approaches to patient selection, evaluation and diagnosis. 

Each new clinical site may have variations in handling health insurance coverage for clinical testing and care. However, no patient will be turned away from participation in the UDN based on lack of health insurance coverage. 

"We believe that there is a substantial unmet demand for the diagnoses of conditions that have perplexed skillful physicians," said Isaac Kohane, M.D., Ph.D., professor of pediatrics at Harvard Medical School and Boston Children's Hospital and principal investigator of the Coordinating Center. "We want to address inquiries from physicians and patients throughout the country who require these services and, in doing so, create a 21^st century model for diagnosis and treatment in this genomic and information-intensive era." 

UDN investigators will share genomic data from UDN patients with the research community through multiple public repositories. Network-wide data sharing will observe standards of patient privacy, confidentiality and management of health information.  

The network will start up and test its operating procedures during its first year. It will progressively expand recruitment of patients so that by the summer of 2017, the rate of admissions at each new clinical site will be about 50 patients per year. For a period this summer, referrals from clinicians on behalf of undiagnosed patients may continue to be made through the existing NIH application pipeline. 

Instructions on applying to the UDN on behalf of a patient can be found at rarediseases.info.nih.gov/undiagnosed.
For more information about the UDN, including related funding announcements, visit http://commonfund.nih.gov/Diseases/index.
These UDN clinical site awards are supported by NIH grants 1-U01HG007672-01, 1-U01HG007674-01, 1-U01HG007709-01, 1-U01HG007690-01, 1-U01HG007708-01, 1-U01HG007703-01. 

NHGRI is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI Extramural Research Program supports grants for research and training and career development at sites nationwide. Additional information about NHGRI can be found at www.genome.gov.
The NIH Common Fund encourages collaboration and supports a series of exceptionally high-impact, trans-NIH programs. Common Fund programs are designed to pursue major opportunities and gaps in biomedical research that no single NIH Institute could tackle alone, but that the agency as a whole can address to make the biggest impact possible on the progress of medical research. Additional information about the NIH Common Fund can be found athttp://commonfund.nih.gov.
National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 institutes and centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

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