NGLY1 parent and University of Utah Professor Matt Mightwas 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.
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.
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
