Recent Press and Blogger Coverage:
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It's yet another rare disease affecting Ashkenazi Jews
Reprinted in Times of Israel, Jewish Telegraphic Agency, Ottawa Jewish Bulletin, and LA Jewish Journal
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design
Frequent misdiagnosis of adult polyglucosan body disease
Robert's Story
Article on page 5 of Sept/Oct issue. Ad on page 26 of Sept/Oct issue
Update on APBD and Misdiagnoses
A Medical Mystery
David's Story
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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.
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Articles of Interest:
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Expression of recombinant GBE1-p.Y329S resulted in drastically-reduced protein yield and solubility compared to wild-type, suggesting this disease allele causes protein misfolding and may be amenable to small molecule stabilization. Small molecule chaperones could become novel therapies for APBD.
A retrospective study of 30 patients. Common initial symptoms. Common initial misdiagnoses. Signs and findings at time of correct diagnosis. Reason for diagnosis delays.
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APBD TRIBE
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 apbdtribe.com, to see what we have to share.
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| Searching for a Diagnosis
click to open the brochure
Patients and Clinicians:
click to open our new trifold brochure
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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.
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Letter from the President
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Gregory Weiss,
APBD President and Founder
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Dear APBD Community:
For an elusive orphan disease, we are very fortunate to have on our side spectacular researchers in five countries, representing several academic institutions. Additionally, we have patients and their wonderful family members and friends who are actively supporting the work of the Research Foundation. Thanks to all of you!
Let me share some recent advances:
1. In my last letter I described an unprecedented opportunity for a drug initiative. The opportunity is still there, and our related OPEN LETTER appeal to identify 200 APBD patients is still going out in the US and abroad. I'm happy to report that the count for the registry has gone up, but we must continue the work to reach more APBD patients who've yet to be diagnosed. Please go here to read our OPEN LETTER, and please help us circulate that letter further by sharing this hyperlink via FaceBook, Twitter and your personal blogs. http://apbdrf.org/open-letter/
2. A first for the APBDRF: We joined with Israeli patients and partners to hold a conference at Tel Aviv University.
The session on October 18 was well attended, in great part because Dr. Amit Michaeli of Pepticom presented on a special peptide he calls LaTKE. Here's a short animation about LaTKE. I think you'll find it as inspiring as I do. And click here to read a recently published article from the journal Human Molecular Genetics that explains the peptide.
3. At that same Tel Aviv University conference, we were also honored to have Professor Miguel Weil present on his personalized medicine initiative. I'll provide a short description of the presentation here, but a more thorough summary will come in a future newsletter.
4. With great happiness I share good news about a research proposal from Dr. Orhan Akman of Columbia University. Having made the ground-breaking discovery of an intronic mutation in the gene associated with APBD, Dr. Akman now envisions developing a mouse model with the intronic mutation and using that model to develop a potential drug to cure APBD.
5. And certainly deserving a round of applause, our own marathoner, JoJo, ran the New York City Marathon for a second year in honor of the work we do! She finished in 4 hours, 48 seconds and raised an amazing $47,222 for APBD research. 74 donors are responsible for the outstanding financial success of the day, and our sincere appreciation goes to you as well. This brings me to good news/ tough news in the area of funding: - Thanks to a newly formed Israeli partner, IsrAPBDF, and commitments from the board of the APBDRF we have approximately $100,000 promised towards the $150,000 needed to launch the LaTKE peptide research I described earlier in this letter. We need more help here. Will you step up?
- Four friends "adopted" Dr Akman's project with an offer to fund $75,000 of the $147K budget required budget required to build a mouse model with the intronic mutation. Who will come forward to help cover more?
- And then there are backroom operating expenses for 2016. We take pride in keeping that line item very low, but we just can't avoid certain costs associated with office administration, professional accounting services, legal advice, and very specialized management advice.
These are very exciting times, but our research advances, our efforts to beat a disease that has no compassion, our assistance for people who are searching for a diagnosis rest on financial contributions from caring individuals like you. We need whatever level of support you can manage. Please think of the APBDRF as this tax year comes to a close.
All the best,
Gregory Weiss
President, APBD Research Foundation
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WE NEED YOUR HELP
DONATE BEFORE THE END OF 2015
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You just read about hugely important activities which are in need of your support. If funding is shy, the Board of Directors is forced to make painful decisions about work that matters to you.
Please: Take out your checkbook or credit card.
Click this button right now.
Donate before the year ends.
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Edelman Community Investment Grant Winner -
Two Years in a Row
Edelman, the world's largest public relations firm, supports global citizenship through its Community Investment Grant Program. Edelman says it well: They want to "change tomorrow's story." As each year closes, Edelman encourages its employees to nominate their favorite non-profits for coveted grant dollars. One of our supporters works for Edelman and nominated us in both 2014 and 2015. Yes, we came out as a winner in both years. Thank you Edelman! We're proud to do work that will most definitely change tomorrow's story.
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Website Visits Soar Thanks to Google Adwords Grant
The Google Adwords program is largely focused on keywords that people "google" via the Google search engine. Our Tech Team put considerable time and effort into applying for a $40K monthly grant, and it paid off!
The grant significantly improves our ability to connect with people who are searching for a diagnosis or searching for resources concerning APBD. When they "google" symptoms, medical terms, etc. using the Google search engine, our website rises to the top of their search. Furthermore, searches in English, Spanish, Hebrew, French are supported.
The result of this windfall? Our website hits jumped from 10K to nearly 40k in just one month.
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Outreach to Educate Neurologists About APBD
In our previous newsletter, we introduced you to an article that had just been published in the journal Neurology, "Frequent misdiagnoses of adult polyglucosan body disease" by MA Hellman, et al. Check it out here.
Supported by a donation from one of our patients and tremendous volunteer time from Dr. Ross Reife, we turned the findings into a mailer that we distributed to neurologists in New York City, Portland, and Chicago. It resonated! Would you like to support a mail-out to neurologists in your city? Please email our Executive Director Sharon Steinberg at sharon@apbdrf.org
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Jewish Newspapers and E-Publications Pick Up Our Story!
Journalist Suzanne Pollack produced an imaginative and intriguing feature article about APBD patients living in Maryland and Georgia. Take a look at it here. It was published initially in DC's Washington Jewish Week, but in no time at all it was picked up by the Times of Israel, the Jewish Telegraphic Agency, the Ottawa Jewish Bulletin, and LA's Jewish Journal. Instantly, emails hit our inbox from people who saw themselves in the article.
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Your help in getting this story or other pieces into traditional and electronic publications would be invaluable.
Why? Inevitably, with each printing of a story, readers see the A-P-B-D hallmark signs and symptoms in themselves and contact us for testing. More testing means more diagnoses. Each diagnosis means another family can stop its exhausting search for an answer. Each diagnosis means another patient can join the Patient Registry and move us closer to that magic number of 200.
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To help the Jewish community recognize APBD in its early stages, the Research Foundation created a memory tool which is based on the initials of the disease's name:
*A - Adult men and women with symptoms beginning between the ages of roughly 40 and 60.
Occurs most frequently - but not exclusively - in patients of Ashkenazi Jewish origin.
*P - Peripheral neuropathy (numbness, weakness, or tingling in the toes, fingers,
hands, and/or feet)
*B - Bathroom frequency beyond the norm, or difficulty with bladder control
*D - Diminished energy (May develop later in disease process)
Any man or woman of Ashkenazi Jewish descent who is searching for a diagnosis and sees the A-P-B-D indicators in himself/herself should get tested for the disease called APBD. It's simple. A saliva sample is collected in one's home and sent to a lab at Columbia University in New York for analysis. The analysis is being underwritten by the APBD Research Foundation.
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Have You Been Diagnosed With APBD?
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