Neuromuscular Disease Foundation
Winter Edition Q1

February  2017
In This Issue
New Website
Visit our new website

Please support our sponsors: 


Beverly Hills Rotary 

Global Genes

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Want to be part of our solution? Check out the many ways in which you can join our global effort for a cure by clicking here.

Gala Pics

Dr. Emil Kakkis Speaks at NDF Gala

 Imad Kazim, Patient advocate. 

For more event pictures visit
Dear GNEM Family!

We've been working hard at NDF for the past year and we're ready to showcase our activity for 2016!

Transparency is a cornerstone of our values at NDF. While we prepare our ANNUAL REPORT and FINANCIALS for you to peruse at your leisure, here's a quick look at our accomplishments at NDF this past year, with only one employee, 9 dedicated Board Members, and a team of volunteers and donors without whom none of this would be possible.

Here's a list of
2016 NDF

  1. We produced a New NDF Website. Our new web presence, is designed to be a destination portal for anything you ever wanted to know about GNE Myopathy (GNEM/HIBM).
  2. We produced NDF Film about GNEM. We follow the story of one patient's heartwarming journey as we search for a cure. Interviews with scientists shed light on the condition that every patient faces.
    Bracing For Life, With GNE Myopathy
    Bracing For Life, With GNE Myopathy  

  3. NDF Produced a Public Service Announcement with the help of funding from NDF grants. Our  "NDF Ambassadors" (An Outreach & Awareness Program Committee) spearheaded the production of a Public Service Announcement for GNE Myopathy.   WATCH PSA HERE

  4. With support from Board Member  Carol Gelbard and volunteer  Dr. Jeannine Rahimian, our NDF Ambassadors have launched a new element to our Awareness Program, focusing on  "Prevention", by expanding our outreach to OBGYNs and learning how NOT to pass on GNEM to future generations. 
  5. NDF expanded the Scientific Advisory Committee to include distinguished new members, including Dr. Laura Rufibach (JAIN Foundation), Dr. Madhuri Hegde (Emory University & Perkin Elmer), and  Dr. Andy Koglenik (The Open Medicine Institute).
  6. In our efforts to expand our reach, NDF Launched a New York Chapter in Great Neck, NY. For a list of local chapter leaders click here. 
  7. NDF h osted a launch event and Patient Day in New York deepening access for East Coast patients and caretakers to GNEM specialists and educating them about treatment options in the works. For photos of this and other events, click here
  8. Our expansion to New York, has exposed us to a new set of donors, patients, and stakeholders, one of whom has offered a  $250,000 matching Pledge (plus additional funds*) towards innovative  Gene Therapy.
  9. We established a relationship with the Iranian American Jewish Federation of NY (IAJF New York)  and applied successfully for a $100,000 grant, which will also go towards our efforts with Gene Therapy. Please support our friends by clicking here. All this happened in addition to generous grants from Ultragenyx, Rotary of Beverly Hills, Global Genes, and many other sponsors and donors.
  10. NDF moves forward with Gene Therapy. With this kind of generous support behind us, NDF has been proactive in pursuing  Gene Therapy as a potential treatment for GNEM/HIBM.  At NDF, we took our first step towards this exciting process in JULY 2016. The first process is known as a Pre-IND, which is essentially a safety study for the FDA.  If our scientists can show efficacy, then the FDA will approve them for the IND (Investigative New Drug) phase. 
  11. Our collaboration with the world-renowned Dr. Mendell of Nationwide Children's Hospital, Ohio State, has won us a lot of attention from bio-tech and Industry professionals, as this will be one of the first rare diseases to reach for such cutting edge technology as a potential treatment. 
    Watch this video to learn about  Dr. Mendell's  experience and explanation about Gene Therapy on MSA, another muscular disease that affects babies. 

    Hopefully you see why we are so excited about not only gene therapy, but generally, the advances in technology and its intersection with biology! 
  12. But we're not done! We also hosted the largest symposium on GNE Myopathy last year at UCLA,
    bringing together patients, families and scientists to discuss the latest in GNEM/HIBM trials, treatment options and other possibilities. 
  13. Possibly our biggest achievement of 2016, however, has been the official formation of NDF's International Consortium of GNEM Scientists. Against all odds we have been able to pull together scientists from ISRAEL, JAPAN and the U.S.; including scientists from the NIH, Ultragenyx, Emory, UCLA/UCI and OMI to collaborate and share data in a central data-bank. The significance of this collaboration could mean big things for patients everywhere. Be on the look out for more information on this in the weeks and months to come...
  14. Finally, thanks to the support and advocacy of Drs. Sharona and Daniel Nazarian, NDF was recognized for its efforts with an  Award  from The Beverly Hills Health & Safety Commission for work on GNE Myopathy.

    CONGRATULATIONS TO ALL WHO HELPED WITH OUR EFFORTS! And a big thanks to NDF's Dr. Carmen Bertoni for receiving the award on our behalf! 

With best wishes for a healthy and productive 2017!
Lale' Welsh, 
Executive Director, Neuromuscular Disease Foundation

  * A Full Annual Report, complete with financials, pie charts, tax and donors details will be published before Q2. For previous years, please click here

Annual Giving  Campaign

We've learned something about YOU in ten years, and that's that YOU, our supporters are a mix of all stakeholders in this insidious disease.  YOU are our patients, carriers, family members, caretakers, volunteers, sponsors and donors alike.  And each of you have done what you can to demonstrate loyalty year after year.  We thank you and let you know that while we still need your support, we've done what we can to help with the ease of giving incrementally or passively from the comfort of your home. 

Pease click here  to find out about our Annual Giving Levels. and see if there's an amount that is right for your family, and your budget. 
Every dollar counts!

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