• 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, February 2, 2015

President Obama congratulates the NGLY1 community

NGLY1 parent and University of Utah Professor Matt Might was invited to White House for the announcement on the President's Precision Medicine Initiative on Friday, January 30th:


Before the announcement, the NGLY1 father and a handful others were invited to meet privately with the President to share their stories of success in precision medicine.

Cancer survivor Kareem Abdul-Jabbar and Matt Might wait to meet with the President.

President Obama offered congratulations to Might on behalf of the entire NGLY1 community for their pioneering application of precision medicine in discovering the disorder.

Professor Might thanks the President.
In turn, the professor thanked the President for the new initiative on behalf of the entire rare disease community, which will broadly benefit all patients, NGLY1 and otherwise.


After the private meeting, the President announced the initiative publicly.

 



After the event, the President again thanked the precision medicine advocates for attending.


Afterward, the NGLY1 advocate used the opportunity to discuss how the NGLY1 community is creating a new collaborative model for understanding, treating and curing rare disorders with a number of other guests, including Director of the NIH, Dr. Francis Collins:


Already familiar with the disorder from its coverage in The New Yorker, Dr. Collins thanked the NGLY1 community for clearly and publicly communicating the importance of complex science.  Might thanked Dr. Collins for the significant investments NIH has been making in NGLY1 through the CDG Protocol.  The NGLY1 community looks forward to deepening the scientific partnership with NIH.

Before meeting with the President, Might also met with Congresswoman Diana DeGette:


Rep. DeGette has been showcasing the NGLY1 community as a model of 21st Century Medicine in speeches and on the floor of the House, and she congratulated the entire NGLY1 community on their extraordinary efforts.  Might thanked Rep. DeGette for being a powerful voice for NGLY1 and patient-driven medicine.

Dr. Collins attended the lunch that followed the event:

NIH Director Collins (right), Deputy NIH Director Hudson (middle) and White House Senior Advisor Claudia Williams (left).

Dr. Collins spoke about how this initiative would make a major difference for patients, and how he and the NIH were eager to work directly with patient communities.

Dr. Might is a member of the national working group that will architect one of the newly announced Presidential initiatives in precision medicine: the million-member research cohort.  He has been asked to bring his combined expertise as a patient advocate and a computer scientist to help outline the research challenges and objectives in constructing this cohort.

Saturday, January 31, 2015

Eric Topol's "The Patient Will See You Now" cites NGLY1




Eric Topol's new book, The Patient Will See You Now, is an excellent read on the future of medicine and the era of engaged patients.

The NGLY1 community has since its inception been a model of how it's possible to push the science forward with engaged patients and technology.

It is a great pleasure to see the NGLY1 community (and NGLY1 Dad Matt Wilsey of the Grace Wilsey Foundation) cited in a few pages as a example of an engaged patient community.

Topol cites the NGLY1 community's efforts at patient-finding over the internet, as well as harnessing "individuals outside the box" in medicine.

NGLY1 researcher Gregory Enns (Stanford) comments, "This represents a complete change in the way we're going about clinical medicine."

The NGLY1 Community may be small, but it is united and it is committed.

Working together, we can make a difference.

We will make a difference.

Saturday, January 24, 2015

2015 Running for Rare Diseases

A diagnosis is the first step toward a cure.  Bertrand, Victoria and Winston Might are proud to partner with Pam Lynch from Genzyme on the 2015 Running for Rare Diseases Team to support the Undiagnosed Diseases Network.
NGLY1.org is proud to partner with the 2015 Running for Rare Diseases Team to raise awareness and funds in support of the Undiagnosed Diseases Program at NIH through NORD.  

It wasn't that long ago that all of our NGLY1 kids were undiagnosed and without hope.  A diagnosis can change so much!  

Duke, Stanford, Baylor, Harvard, NIH are among the nodes in the Undiagnosed Diseases Program that have played/continue to play an active role in NGLY1 research.  

It is our hope that through our encouragement and support, these fantastic scientists will be able to help many more undiagnosed kids as well.

Facts about this year's team:
  • 102 Running Team Members (23 - Boston Marathon, 2- Paris Marathon, 80- Providence Half and Full Marathon – a few are doing more than one race)
  • 74 Runner/Patient partnerships
  • 58 Rare Disease Communities represented  (See Table below)
  • Runners from 14 different states and 3 different countries
  • Patient Partners from 19 different states and 3 different countries

Rare Disease Communities Represented
Gaucher




Monday, November 24, 2014

Rare Is Not an Excuse

The Grace Wilsey Foundation has put together a fantastic video!

Rare is not an excuse:


Please share!

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 high importance.

This cutting-edge family and medical event will be held in 29 and 30 August 2015, in Lyon (France). It should be noted that this congress is organized in parallel with the Annual Symposium SSIEM that will be held in Lyon, 1-4 September 2015 (France).

“The 2nd World Conference on Congenital Disorders of Glycosylation for Families and Professionals: a challenging story of sugar trees” is expected to draw more than 250 attendees consisted of families and the main CDG professional Key Opinion Leaders coming from all countries. Speaker presentations will cover a diverse range of themes previously voted on.

View the outstanding speaker lineup from the 2013 event here:

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:

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 will be responsible for building a program that comprehensively integrates genetics and genomics into research, patient care, and education at Columbia University Medical Center (CUMC) and NewYork-Presbyterian and that develops programs to prepare students for careers in the expanding field of genomic and personalized medicine.
David Goldstein
David Goldstein, PhD, will join Columbia University as professor of genetics and development and director of a new Institute of Genomic Medicine. (Image Credit: Duke Photography)
Dr. Goldstein’s role includes serving as an adviser to Columbia University President Lee C. Bollinger and Executive Vice President for Health and Biomedical Sciences Lee Goldman, MD, on the genetic and genomic components of Columbia’s university-wide initiative in precision or “personalized” medicine, which was announced in February.
“Having a pioneering researcher like David Goldstein join us marks a crucial next step in our initiative to be at the forefront of genomics, data science, and the core science and engineering disciplines essential to this emerging field of truly humanistic medicine,” said President Bollinger. “The potential for progress in this broad subject encompasses not only new cures for disease, but also virtually every part of the University, including areas that explore fundamental issues of human self-understanding, as well as the legal, policy, and economic implications of revolutionary changes in knowledge and practice.”
Dr. Goldstein’s research has focused on identifying the relationship between human genetic variations and diseases such as epilepsy, hepatitis C, and schizophrenia, as well as the response of these diseases to pharmacologic treatments. In addition to his leadership of the Institute for Genomic Medicine at CUMC, he will have a faculty appointment at the New York Genome Center, as well as one in neurology at Columbia’s College of Physicians and Surgeons.
“David Goldstein has shown himself to be both an innovative scientist and a visionary leader in genetic, genomic, and personalized medicine,” said Dr. Goldman, who is also the Harold and Margaret Hatch Professor of the University and dean of the Faculties of Health Sciences and Medicine at CUMC. “Working with our partners across Columbia and at New York-Presbyterian, Dr. Goldstein will help us establish a fully integrated genetics and genomics research environment to maximize the scientific possibilities and apply them to the frontiers of patient care and public health.”
“Personalized medicine and targeted therapies represent the future of patient-centered health care,” said Steven J. Corwin, MD, CEO, NewYork-Presbyterian. “Dr. Goldstein’s expertise in genetics will help us not only to tailor individualized treatments for patients, but  also to identify diseases before they develop. His work will have a transformative impact on patient care at NewYork-Presbyterian.”
Dr. Goldstein comes to Columbia from Duke University, where he has been director of the Center for Human Genome Variation and the Richard and Pat Johnson Distinguished University Professor, with appointments in the departments of molecular genetics & microbiology and biology. He joined Duke in 2005 after six years at University College London, which named him Honorary Professor in 2007. He received his PhD in biological sciences from Stanford University in 1994.
“The vision of Columbia University and NYP to create a truly integrated environment for research, clinical application, and student instruction is exactly the right vision,” said Dr. Goldstein. “Human genomics is creating breathtaking new opportunities to better understand the biology of disease and to provide more effective and more accurately targeted therapies. Capitalizing on these opportunities and ensuring that clinical applications adhere to the highest-possible scientific standards requires close collaborations among researchers, the clinical community, and patients and their families. I am thrilled to be joining Columbia University at this pivotal time in my field, and I am honored to participate in Columbia’s university-wide initiative in precision medicine.”
Dr. Goldstein was elected a fellow of the American Association for the Advancement of Science in 2013 and received one of the first seven nationally awarded Royal Society/Wolfson research merit awards in the United Kingdom for his work in human population genetics. Also in 2013, Dr. Goldstein chaired the Gordon Research Conference in Human Genetics. He serves on the Advisory Council at NIH’s National Institute of Neurological Disorders and Stroke.
The task force President Bollinger announced in February is co-chaired by Dr. Goldman and Columbia Provost John Coatsworth, PhD.
About:
Columbia University Medical Center provides international leadership in basic, preclinical, and clinical research; medical and health sciences education; and patient care. The medical center trains future leaders and includes the dedicated work of many physicians, scientists, public health professionals, dentists, and nurses at the College of Physicians and Surgeons, the Mailman School of Public Health, the College of Dental Medicine, the School of Nursing, the biomedical departments of the Graduate School of Arts and Sciences, and allied research centers and institutions. Columbia University Medical Center is home to the largest medical research enterprise in New York City and State and one of the largest faculty medical practices in the Northeast. For more information, visit cumc.columbia.edu or columbiadoctors.org.

NewYork-Presbyterian Hospital/Columbia University Medical Center, located in New York City, is one of the leading academic medical centers in the world, comprising the teaching hospital NewYork-Presbyterian and its academic partner, Columbia University College of Physicians and Surgeons. NewYork-Presbyterian/Columbia provides state-of-the-art inpatient, ambulatory and preventive care in all areas of medicine, and is committed to excellence in patient care, research, education and community service. NewYork-Presbyterian Hospital also comprises NewYork-Presbyterian Hospital/Weill Cornell Medical Center, NewYork-Presbyterian/Morgan Stanley Children’s Hospital, NewYork-Presbyterian Hospital/Westchester Division, NewYork-Presbyterian/The Allen Hospital and NewYork-Presbyterian/Lower Manhattan Hospital. The hospital is also closely affiliated with NewYork-Presbyterian/Lawrence Hospital in Bronxville. NewYork-Presbyterian is the #1 hospital in the New York metropolitan area, according to U.S. News & World Report, and consistently named to the magazine’s Honor Roll of best hospitals in the nation. For more information, visit www.nyp.org.