• 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

Monday, February 2, 2015   3 comments
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:

Post by The White House.

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.