In This Issue
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Living With APBD
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Recent Press and Blogger Coverage:

The Argonaut News Robert's Story


Jewish Daily Forward  

Robert's Story   


The Jewish Georgian

or see our ad on Page 32 - Our First Article


PLOS Blog  -

APBD - A Diagnostic Challenge



Center for Jewish Genetics

A Medical Mystery


The Neuropathy Association  

David's Story 

From the Webmaster:
Patient Corner
In this section you will find personal accounts of people affected by APBD. The APBDRF as a patient support group does not endorse any health practitioners, therapies, medicines, etc.
While researchers chip away at finding the cause and cure for APBD, patients, partners, and care givers seek work-arounds for disease symptoms.  "Tribe" members are constantly on the lookout for tips and ideas to help blunt their challenges. Visit, to see what we have to share.
Searching for a Diagnosis 
click to open the brochure
Patients and Clinicians: 
click to open our new trifold brochure
APBD in Neurology Now
Thanks to the work of David Epstein, our organization has been included in the Resource Central Section of Neurology Now  
magazine. You can read it online here, and order a FREE subscription to the magazine as well.
Article of Interest:
Having a rare disorder is difficult. But having a rare disorder and not knowing what it is or how to treat it is even worse. Find out how long it takes between symptoms and diagnosis.
Allied Organizations
Foundation for Peripheral Neuropathy
National Institutes of Health - Office of Rare Diseases Research
Letter from the President


Dear APBD community:

 Gregory Weiss,
APBD President and Founder


In April, the APBD Research Foundation held its 11th

Annual Scientific Advisory Board Meeting where key researchers shared their thoughts and discoveries with each other.  Questions were asked.  Suggestions were made.  This sounds unremarkable, but in fact, it is very remarkable. 



The researchers who are working on APBD are an unusually collaborative group.  They recognize that therapies and cures for this progressive, debilitating disease will come so much faster if they cooperate and share with one another.  A finding in one venue shapes the approach in another.  Experience with a certain lab technique in one setting informs another scientist's approach in another lab.  And so on.  The collaboration that resulted in the discovery of a new APBD mutation -- described in our last newsletter -- is a perfect example of my point of pride. 


Attendees of the 11th Annual Scientific Advisory Board Meeting



Before I summarize for you the highlights of our speakers' presentations, I want to mention a few people without whom the meeting would not have been so productive.


Sharon Steinberg
Alan Treitman


Several months of careful planning and coordination by our Executive Director Sharon Steinberg and technology guru Alan Treitman helped to make the meeting a success.  We are most grateful to Sharon for her tireless efforts and to Rabbi Sebert and Town and Village Synagogue for their generosity in hosting us for a second year.






Dr Edwin Kolodny
Professor Emeritus of Neurology, Dept. of Neurology, NYU Langone Medical Center



The Research Foundation is exceedingly grateful to Dr. Edwin Kolodny. Since the inception of the Foundation, Dr. Kolodny has nurtured a growing international cadre of outstanding researchers, and he has been a source of wisdom, knowledge and inspiration to the leadership of the Foundation.





Summary of Meeting Highlights


H. Orhan AkmanColumbia University Medical Center, New York, NY 

        • Explained the discovery of a new APBD mutation and how it changes the "manifesting heterozygote" label to "compound heterozygote" for some APBD patients.    
        • Updated research showing that Guaiacol expanded the lifespan in APBD mouse models and should therefore proceed into further testing. 



Pablo V. EscribaUniversity of the Balearic Islands, Palma, Spain


        • Described work with TGMs. 
        • Described the potential of TGM5 as a nutraceutical therapy having a shorter lead time for development than drugs which come under the purview of the US Food and Drug Administration. 


Or KakhlonHadassah Hebrew University of Jerusalem, Israel 



        • Described new candidates for reducing polyglucosan bodies. 
        • Described a peptide that stabilizes and activates GBE1, the enzyme deficient in APBD patients. 
        • Working with Pablo Escriba regarding TGMs.



Ruth KornreichMt. Sinai School of Medicine, New York, NY 


        • Announced team's finding of a 1:68 carrier frequency for the two Ashkenazi Jewish APBD mutations. 
        • Announced that the Mount Sinai Genetic Testing Laboratory will now include APBD in its Comprehensive Jewish Carrier Screening Panel.



Berge Minassian and Erin ChownThe Hospital for Sick Children, Toronto, Canada 


        • Set a goal to "leave no stone unturned" and advocated the use of a cocktail therapy to fight APBD. 
        • Described therapeutic approaches to prevent formation of polyglucosan bodies and to degrade pre-existing polyglucosan bodies. These approaches include: knockdown of GYS1 and PTG, testing ASO therapy, and using amylase to degrade pre-existing polyglucosan bodies.





Raphael Schiffmann and Mary WallaceBaylor Research Institute, Dallas, Texas 



        • Summarized the treatment trial for triheptanoin.   Delivery of all findings is expected this summer.  Offered initial, blinded view of six minute walk test results.


        • The accumulated living history data that was collected during the trial will be important to approvals for future trials.




Tamar Grossman, ISIS Pharmaceuticals, Inc., Carlsbad CA

        • Described antisense technology platform. 
        • Presented data and clinical trials with ASO drugs treating    genomic disorders.
        • Presented preliminary data with ASOs for treatment of APBD and Lafora Disease

Baodong SunDuke University Medical Center, Durham, NC 

        • Discussed the efficacy of gene therapy with an AAV vector.  Systemic injection of the vector at a young age completely corrected glycogen accumulation in the heart and skeletal muscles of a mouse model of APBD and significantly reduced the glycogen level in the brain. 



Wyatt YueUniversity of Oxford, Oxford, UK 


        • Described the potential for an APBD therapy using a small molecule to stabilize GBE, the enzyme deficient in APBD patients.



I'll close this letter with the same appeal I shared last time...


Please get involved.  We need: 

  • Help from the Jewish community, which we hope will understand their own self-interest in getting to a cure for a disease that hides in its population. Here's a letter that rabbis and leaders of Jewish communal organizations could share with their memberships.
  • A strong outreach campaign to identify undiagnosed patients who are seeking an answer to a troubling combination of symptoms. Click here to see our video of APBD patients who describe the symptoms that sent them on a search for a diagnosis.
  • A large contingency of supporters who are willing to work to keep the progress going.   To help, please email our Executive Director Sharon Steinberg at
  • A robust, up-to-date patient registry.  Click here if you're a patient and haven't yet registered. 
  • Assistance with funding.  With our limited resources to date, see how much we have accomplished!  But the costs associated with continued disease research and the therapeutic trials that are on the horizon are astronomical.  Please click here to donate!  We need your support.


Thank you for taking interest.  Thank you for taking action.


All the best,

Gregory Weiss

President, APBD Research Foundation



Also a special thank you to Harriet Saxe, Susan Coddon, 

Dr. Ross Reife and Dr. Jeff Levenson for their work on this newsletter.


Many thanks to the APBD registry's Principal Investigator - Dr. Salvatore DiMauro for his wise counsel these past 10 years.

Dr. Salvatore DiMauro is the Lucy G. Moses Professor of Neurology at Columbia University, New York

APBD registry update
PLEASE get your physician forms filled out and uploaded on a yearly basis onto the APBD registry. It is very important!  Read how big data was used to help a Lupus patient in this New York Times article: 
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