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It's been a big year for GNEM.
In spite of the recent disappointing news about the
phase 3 clinical trials on Sialic Acid
*, we are eternally grateful to
Ultragenyx,
their scientists, and for their true leadership. Special thanks to Ultragenyx's Associate Director, Patient Advocacy,
Kim Mooney
, for her tireless encouragement, and to
CEO, Dr. Emil Kakkis for his inspiration.
Without Dr. Kakkis' generosity (both personal and professional) many of our programs would not have been possible. We thank them sincerely on behalf of all our patients and constituents for their years of kinship.
*
Click
to read Dr. Kakkis' letter to patients
.
Post-Symposium Science updates:
NDF Gene Therapy-2017
The reality of
Gene Therapy
is upon us, and
NDF is
finalizing its 1st step; the Pre-IND process. NDF's partner,
Dr. Jerry Mendell
of Nationwide Children’s Hospital in Columbus, Ohio, presented this and necessary next steps at our recent Symposium dinner. You can watch his presentation,
here
.
NDF Collaboration with the NIH- 2017
We are delighted to announce that o
ur
Board of Directors
has voted to support the extension of NIH’s phase 2 trial of ManNAc. This agreement was reached in early October, and will be funded immediately in Q4.
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NDF's Newest Core Programs
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The NDF Scientific Consortium
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Our newly formed Scientific Consortium fosters a rare opportunity for expert GNEM scientists from around the world with members of our Scientific Advisory Committee to meet, share data and discuss their research in a collaborative setting spearheaded and coordinated by NDF.
This unprecedented collaboration of the greatest minds currently working on GNEM promises to be a tremendous asset to everyone in the GNEM community and the future direction of our research.
Stay tuned for more information about NDF's innovative data-sharing strategy in our Winter Issue.
Coming soon!
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4th Annual NDF Symposium Recap
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NDF has grown.
Our Symposium has become an unprecedented gathering for the sharing of information from many of the leading GNEM advocates, researchers, and industry leaders. Patients, family caregivers, donors, as well as physicians and scientists attended from over
15 different countries. In addition, t
he scientific presentations were shared on Facebook Live to reach patients unable to attend in person.
Our speakers made up a coalition of the best and brightest minds working on GNEM (HIBM), ranging from trusted old friends from
UCLA,
UCI,
Hadassah Medical Center,
The Jain Foundation, and
T
he NIH, to scientists from
Perkin Elmer,
Newcastle University - UK,
The National Center of Neurology and Psychiatry - Tokyo, Japan, and
Pusan National University Yangsan Hospital - South Korea.
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A Patient's Perspective on the 2017 NDF Symposium
Written by NPF Patient Advocacy Program Manager, Tara Voogel
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Until recently, the GNE Myopathy community had never attempted a gathering of researchers, patients, and caregivers in a large scale setting. That is, until the Neuromuscular Disease Foundation successfully conducted and completed its Symposium on August 24-25th, and in such an exemplary manner. The Symposium made it possible for the GNEM community to gather together under one roof to discuss their experiences and examine the available research on this rare disease.
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NDF Certified Patient Advocacy
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NDF is proud to enlist dedicated GNEM patients from around the world to help us with our important work in patient advocacy. Our first class of NDF Certified Patient Advocates (CPAs) received pins and certificates at our recent Symposium in conjunction with their commitment to help us in our efforts to bring programs to their fellow patients and caregivers in their home countries.
To apply to become a CPA, contact us,
here.
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NDF Ambassadors' Awareness Event
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Earlier this month, the
NDF Ambassadors
hosted "Eyes Wide Shut, A Masquerade Ball" at Warwick in Hollywood. The night was a celebration of our ability to come together as a community to encourage genetic screening in our efforts to identify, treat, and prevent GNE Myopathy (HIBM) from being needlessly passed down to future generations.
The NDF Ambassadors were joined by nearly 300 guests and were empowered more than ever to help NDF in its community-wide efforts to shed light on this rare disease. Please follow
@ndf_ambassadors on Instagram to stay up-to-date with their upcoming events and activities.
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NDF Patient Advocacy Program Manager, Amy Curran,
Shares Her Story At
The NDF Symposium
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"I felt like I lost my purpose in life. Who am I now? I had found an advertisement for NDF’s Symposium on GNEM but didn’t sign up for it. Jon registered, asked for a scholarship, and bought the plane tickets. He knew this symposium was something I needed. We attended the Symposium two years ago and my life changed."
Watch.
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Nutrition and Healthy Lifestyles
For GNE Myopathy Patients
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Dr. Sepideh Tabibian, NDF Board Member and GNEM patient, made a well-received presentation on the topic of nutrition and healthy lifestyles during the recent NDF Symposium. Since that time, Dr. Tabibian has created an outline that shares her wealth of knowledge and experience on the essential nature of good nutrition, especially for those who suffer from chronic illness.
Read more.
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GNE Myopathy Caregiver Support
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NDF board members
Carol Gelbard,
LCSW and
Dr. Roxanna Rahban
, along with NDF Caregiver Liaison,
Jon Pizzi
, led a meaningful session with fellow GNEM families at our latest Symposium. An outcome of this gathering was the desire for a greater sense of community support. To answer this need, NDF has created a private Facebook group devoted to our caregiver community. To connect and be part of important caregiver conversations,
join this group.
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GNE Myopathy Community Resources
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In an effort to provide support to the GNEM patient community, our NDF Certified Patient Advocates have created a comprehensive list of suggested daily living aids and adaptive devices. Included in this list are items that our advocates have found helpful in overcoming some of the limitations faced as a GNEM patient.
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Our Italian & Israeli GNEM Family
We are happy to report that
NDF CPAs
have already hosted a successful program
in Italy
. The next scheduled program will take place
in Israel
in early November. The collaboration with our CPAs allows NDF to sponsor and help coordinate programming and spread awareness across the globe as a means to help more GNEM patients, family members, and caregivers. For more information about our upcoming event in Israel click
here.
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Thank you to our
NY Chapter leads
: Dr. John Hakimi, Gilda Kohan, Farshad Kalati, Dr. Gidon Akler and the IAJF; our
Certified Patient Advocates
: Abdullah Al Shamrani (Saudi Arabia), Maya Davidovich-Cohen (Israel), Imad Kazim (US), Suleyman Kus (Turkey), Michela Onali (Italy), Valeria Pace (Italy), Mona Patel (UK);
Patient Advocacy Program Managers
: Amy Curran (US),Tara Voogel (US) and
Caregiver Liaison
:
Jonathan Pizzi. and as always to our
Scientific Advisory Committee
members for their dedication.
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Support. Volunteer. Advise.
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We can't do this alone. Could you be interested in being part of the solution to GNEM by giving some time and energy to help further our efforts?
Please consider volunteering for NDF or serving on a committee or our Board. NDF is looking for a wide range of volunteer help, from event support to new committee chairs.
To get involved, email our Exec. Director,
here
.
Don’t have time, but still want to help?
Click below to donate now.
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NDF's mission is to enhance the quality of the lives of people living with GNE Myopathy through advocacy, education, outreach and funding critical research focused on treatments and a cure.
We are social!
Click below to follow us.
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Los Angeles
269 S. Beverly Drive, Suite 1206
Beverly Hills, CA 90212
(310) 736-2978
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New York
10 Bond Street, Suite 330
Great Neck, NY 11021
(310) 736-2978
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