NDF 2017 Winter Holiday Newsletter
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Because of support from people like
you
, 2017 has been a year of palpable growth for NDF that has dovetailed and solidified our many years of collective efforts.
Our goal for this newsletter is to share
highlights of our
progress
with you including news about our ongoing programs, where we are with
gene therapy, our funding of a critical component of NIH's ManNAc trials,
and how we have brought global scientific leaders and patients together from 15 countries (and counting) to become the
world's leading GNEM advocacy group
. We sincerely hope this helps get everyone geared up for 2018, which promises to be our biggest year yet.
Growth and progress come at a cost, especially at the precipice of radical change that technology brings in terms of a potential cure. We need our GNE Myopathy community to continue its generosity to NDF so that we can continue to make great strides such as we have this year. Please consider donating with a one time gift
here
or a recurring, monthly gift
here
, to help us fund all of the important work that we have begun, including, in particular, the funding of our next step towards gene therapy which will require raising a staggering estimate of $5 million in 2018.
On behalf of our board, staff and volunteers, I wish you and yours a happy and healthy holiday season and best wishes for an auspicious new year!
Lale'J. Welsh
Executive Director, NDF
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SCIENTIFIC RESEARCH AT A GLANCE: PROGRESS - 2017
In addition to our core funding of scientists at Hadassah and UCLA, we are working on the following research areas:
Gene Therapy - Our Pre-IND agreement with Dr. Mendell is in its final phase and we are gearing up for the next step; a toxicology study (tested on mammals prior to human dosing). This next step is estimated to cost close to $500,000, and we expect that human dosing can begin 12-18 months from its start date in 2018.
Whole Genome Sequencing (WGS)
NDF has announced a collaboration with
PerkinElmer
for WGS paired with metabolomics for analysis of 100 samples, set to begin in January 2018. Click
here
for press release.
NIH and ManNAc -
In order to ensure that the next phase of the
NIH ManNAc trials begins on time in Q1 2018, NDF has funded a gift of
$60,000 to the NIH to support this phase.
Look for more details in our upcoming newsletter in 2018.
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INTERNATIONAL ADVOCACY & EDUCATION
Associate Director
Nancy Lurie
, Patient Advocacy Program Managers
Tara Voogel
and
Amy Curran
, and Caregiver Liaison
Jonathan Pizzi
joined our team and have proven to be invaluable partners in our efforts to support patients, worldwide.
A GNE Myopathy
Caregivers’ Group
has been formed on Facebook and is an important and wonderful forum for family members and caregivers of GNE Myopathy patients. If you would like to become a member, click
here
.
NDF has entered into a new
Advocacy Partner Agreement with
ThinkGenetic to increase public awareness of GNEM.
Click here to see our listing.
Look for ThinkGenetic's press release and blog post coming soon.
Quarterly On-Line Seminars hosted by NDF will begin on January 27, 2018. Our kick-off event will feature our CEO, Lale' Welsh, with detailed updates on NDF's efforts and progress.
Contact us if you would like to attend.
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Ambassador Awareness Event 2017
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Our
NDF Ambassador
s are important liaisons to the community and host an annual event which, in addition to raising awareness of GNEM and money for NDF, also provides information about genetic screening and family planning for carriers. To reach an Ambassador representative, score an invitation to the next event, or to learn more
click here.
Another important component of awareness is understanding the lives and perspectives of patients. This time we're featuring a blog by a beloved patient who talks about what it's like to live with the reality of this disease.
Click here to read Living with HIBM, an insightful and meaningful piece featured in this month's Jewish Journal.
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NEW! Tommy Hilfiger Adaptive Clothing Line
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Check out the interview
with
NDF CEO, Lale' Welsh, about the Tommy Hilfiger adaptive clothing line which will serve the GNE Myopathy community.
Y
ou can read the article here.
The collection includes
pants and shirts that are easier fits for people with disabilities and has garnered praise from
advocacy groups and patients alike.
You can shop the adaptive collection
here
.
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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 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.
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.
Shop AmazonSmile
Support the Neuromuscular Disease Foundation this holiday season 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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NDF Certified Patient Advocacy (CPA) Program Has Gone International
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Our CPAs (currently representing NDF in the US, Canada, United Kingdom, Turkey, Saudi Arabia, Italy, and Israel) have been hard at work educating people all over the world about GNEM. After an event in October in Italy organized by NDF CPA Valeria Pace, NDF Certified Patient Advocate Maya Davidovich-Cohen organized and executed a very successful Patient Day in Israel in November. Over 70 people (including 35 GNEM patients) from all over Israel gathered together in Tel Aviv with scientists from
Hadassah Medical Center
to discuss current clinical trials, genetic screening processes, the progress being made toward gene therapy and every day life for people living with GNEM.
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NDF Certified Patient Advocate with her team - United Kingdom
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GNEM Patient Meeting in Turkey
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Mona Patel, NDF CPA in the UK organized an event at her workplace in conjunction with The International Day of Disable People. She helped people she works with celebrate the efforts that they have made in building a strong community of disabled staff, students and partners. Mona is also planning a Patient Day for Summer 2018.
Dr. Suleyman Kus, our NDF CPA in Turkey recently organized a meeting with his colleagues and physiotherapists at the Hür Denge Rehabilitation Center. At this meeting, Dr. Kus discussed and informed his colleagues and physiotherapists about the clinical aspects of GNE Myopathy and the challenges of living with this rare disease. Dr. Kus is planning a Patient Day in Turkey later in 2018.
In addition to their efforts in their home countries, our NDF CPAs are holding quarterly conference calls in order to keep each other updated about their activities and to support each others’ endeavors. This collaboration has already proven to be an effective way to help spread NDF’s message internationally in a way that we have not been able to before.
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2017 GNEM meeting in Korea (above)
2017 GNEM Meeting in Israel (below)
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NDF Funds Event in South Korea
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NDF has been making a big impact around the globe to increase the awareness and education of GNE Myopathy. At our last Symposium we welcomed Ji Eun Kim (a GNEM patient) and Dr. Jin-Hong Shin from South Korea. Recently, South Korean GNEM patients held their second meeting and invited Dr. Shin to address the group. He discussed and explained the information that was presented at our Symposium, followed by a discussion on rehabilitative treatment. With the funds received from the NDF, patients were able to organize this meeting and purchase balance cushions and thera-bands to assist patients with therapeutic exercises. According to Ji Eun Kim the meeting was an "absolute success."
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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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