NDF 2018 Spring Newsletter
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For 12 years NDF has been passionately pursuing its best attempts at solutions for GNEM patients and carriers. Funding academic studies, launching critical programs, building awareness and community, and expanding our reach by forging collaborations among scientists and governmental agencies are all small steps towards the our goals of treating, curing, and ultimately eradicating this disease. We understand this and we know that it’s not happening fast enough for any of us.
And yet, it’s hard not to see each one of these steps as small victories along the way. Each time we discover a new patient, a new donor, a key board member, or find a new scientist willing to lead a meaningful study, we must recognize these benchmarks as progress or run the risk and trap of magical thinking. Technology is a game changer. Not only are our scientists learning new things daily, but we’ve grown our tribe from the plight of one family to literally hundreds of families world-wide who can now share our burden and amplify our voice through a common goal.
In this newsletter you’ll learn about our growth, our team, and our strategy. Our recent event in Turkey added 65 new constituents to our family: doctors, advocates, and scientists- helping expand our reach exponentially. We’ve added remarkable new board members and scientists to our team, who will help our fast moving strategy keep pace with the speed of technology and all its promise. We look forward to updating you as often as possible, so that you can feel as involved and as central to our decisions as you deserve.
I urge you to take a look at, and consider joining us for, our upcoming
events
;
including our
5th Annual Symposium
at UCLA this August 30-31st. And, be sure to stay tuned for more details about our Fall Fundraising Event. We are working tirelessly and strategically- we want YOU included on the journey to help us get the support we need at this extremely important juncture.
Best Regards,
Lale 'J. Welsh
CEO/Executive Director, NDF
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New Board Member:
Amy Fisher, MS, CGC
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Our newest addition to the NDF Board of Directors is one we’re proud to highlight for her work in the patient advocacy industry. We also love that she happens to work for Spark Therapeutics, responsible for the first directly administered gene therapy approved in the U.S. that targets a disease caused by mutations in a specific gene. Read more about her
here
.
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New Scientific Advisory Committee & Board Member:
Dr. Tahseen Mozaffar
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Few physicians can bring the patient-centric perspective to a board of directors like
Dr. Tahseen Mozaffar (UCI) can.
One of the charter members of the medical community working with GNEM patients and their families, Dr. Mozaffar also serves on our Scientific Advisory Committee (SAC) and is a member of our Consortium on GNE Myopathy. See his bio
here
.
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A Note From Newly Appointed Scientific Director: Dr. Monkol Lek
NDF has supported researchers in their journey towards the ultimate goal of gene therapy in GNE myopathy patients, which hold the promise of halting the progression of this devastating disease. Each rare disease gene requires a unique approach that researchers must take in order to develop not only safe but effective delivery of gene therapies. We look forward to the support of the community to tackle the remaining challenges on the road to a successful gene therapy clinical trial.
We are truly lucky to have the attention of Dr. Monkol Lek (Yale University) - learn more about Dr. Lek,
here
.
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Research Update From NDF Scientific Director, Dr. Monkol Lek
We are currently in the planning stages of performing genome sequencing in a strategic cohort of patients carrying particular GNE mutations, which aims to (1) identify genetic variants within GNE and elsewhere that may be contributing to this variability and further our general understanding of GNE genetics and function (2) identify other genes that may be contributing to the disease (3) correlate outcomes measured from clinical trials to better plan future cohorts.
Click
here
to continue reading.
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Our patient day on May 7, 2018, in Istanbul, Turkey was a huge success thanks to our local NDF Certified Patient Advocate, Dr. Süleyman Kus. In collaboration with the University of Istanbul and the Muscular Dystrophy Association of Turkey, we were able to host over 65 people (patients, caretakers, and physicians alike) who heard the latest from the NIH and the Hadassah Medical Center, as well as discussed the unique issues facing our Middle Eastern constituency. See pictures from the event
here
.
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Coordinated by NDF Certified Patient Advocate, Mona Patel, the first national meeting for those affected by GNE Myopathy in the UK will take place on August 3, 2018, at Manchester Metropolitan University in Manchester, England. This will be a unique opportunity for individuals affected by GNEM in the UK and neighboring European countries to come together to hear about the latest research into treatment and care information, share experiences. and find mutual support. RSVP
here
.
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GNE Myopathy In The News
We are proud to share that GNE Myopathy made the news in Turkey! Click
here
to read how NDF's own CPA spearheaded Istanbul's first ever event on HIBM/GNE Myopathy and
here
to read the news recap of the event.
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NDF Ambassadors Host Awareness Dinner
NDF’s Ambassadors hosted a special evening in their continuing efforts to educate young adults about GNE Myopathy. At this event they spoke about NDF and advocated for the genetic screening and prevention options available to their community.
Event Chair, Sogol Ashourpour, shared her excitement over the success of the event;
“We had intimate, honest conversations with our peers and they left feeling empowered to join us in our mission of creating a future free of HIBM. We have an exciting opportunity as a generation to eradicate HIBM, and our guests were incredibly grateful that we shared the message with them."
Thank you to event chairs Sogol Ashourpour and
Jakob Zackary
and to all of our dedicated Ambassadors for their continued collaboration. See photos from the event,
here
.
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Join us for the 5th Annual Symposium on GNE Myopathy this August 30-31, at UCLA in Los Angeles, CA!
Click HERE to REGISTER.
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Painless Giving At Little To No Cost To You
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Support NDF's Mission Monthly
Support the GNEM community by giving through NDF on a recurring basis. A monthly donation starting as
low as $26
can be set up through our monthly giving program. Click
here
to help
empower NDF
overcome obstacles and continue to move ahead assertively with our mission.
Donate Your Birthday
Set up a fundraiser through Facebook for NDF during your birthday month. Ask your friends to donate to a cause you love as a gift to you! Click
here to learn how.
Donate stock, cars or boats.
We've set up an account to receive your gifts of stock
in one easy transaction. For more details, please contact us
here.
Shop AmazonSmile
Support the Neuromuscular Disease Foundation by using
smile.amazon.com.
The AmazonSmile Foundation will automatically donate 0.5% of the purchase price at no cost to you each time you make eligible purchases. Just type in "Neuromuscular Disease Foundation" as your charity of choice and Amazon will do the rest.
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Raise Awareness in Style
Support NDF by purchasing any of our conversation starting #RareReality products found
here
. A portion of the proceeds from every purchase will go to helping NDF's international Patient Advocacy Program.
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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 GALA leadership to new committee chairs, and possible (paid) contract positions. To get involved, email our Exec. Director,
here
.
Don’t have time to volunteer, 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.
If you like what we do for your community, please consider getting involved in a way that's meaningful for you
here.
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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