Foundation Partners with Probably Genetic to Address Diagnostic Challenges | We are thrilled to announce that the APBD Research Foundation has partnered with Probably Genetic to increase access to genetic testing for potential APBD patients. Jeff Levenson, DDS, co-president of the APBD Research Foundation, emphasized, “One significant focus of our recently enacted strategic plan is addressing the diagnostic odyssey for APBD. Our collaboration with Probably Genetic allows us to suggest a potential path to free genetic testing when a member of the public reaches out with a suspicion that they may have APBD.” | |
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Foundation Attends the 2023 Association for Glycogen Storage Disease Conference | |
The Association for Glycogen Storage Disease Conference in Orlando, Florida, last month was a great opportunity to connect with the broader glycogen storage disease community. There were several presentations that focused on APBD (the adult-onset form of GSD IV) among the many GSDs covered:
Or Kakhlon, PhD (Hadassah Medical Organization) gave an overview of pharmacological approaches for treating glycogen storage diseases, focusing on mechanistic considerations. In a second presentation, Dr. Kakhlon summarized the preclinical outcomes of a lysosomal activator as a therapeutic option for APBD. In that presentation, he also recognized that three APBD patients are currently receiving the treatment under Israel’s provision for compassionate medical treatment.
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Rebecca Koch, PhD, RDN, LDN (Duke University Medical Center) presented on the recently published GSD IV / APBD Clinical Practice Guideline.
Matthew Gayed, BS (Duke University Medical Center) brought attention to the ongoing GSD IV / APBD Natural History Study. The NHS aims to improve diagnostic accuracy, understand better the relationship between genotype and phenotype, and assess disease impact on quality of life.
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Tribute and Memorial Gifts: A Unique Way to Recognize the Special People in our Community! | | |
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Weddings, birthdays, anniversaries, and other milestones come up frequently. Think about making a tribute/memorial gift to the APBD Research Foundation to recognize these special moments while also supporting vital outreach, research, awareness campaigns, and programming that the APBD community greatly needs.
We will acknowledge your gift by sending a card to the honoree or family member on your behalf. The card will specify the occasion, the person being honored, your name, and your address.
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From Chat events to workshops and scientific symposiums, the Foundation hosts programs for patients, caregivers, and health professionals which connect our community members and deepen the understanding of how APBD impacts lives.
These events offer peer support, opportunities to hear from health experts and Foundation leaders, and the chance to raise funds for APBD research.
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Caregiver / Family Chat
August 10, 2023, 7:30pm ET | 4:30pm PT
September 15, 2023, 7:30pm ET | 4:30pm PT
This Chat is hosted by volunteer moderator Linda Cedarbaum. To learn more and register for this event, email Linda at linda@apbdrf.org.
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Patient Chat
August 23, 2023, 8:00pm ET | 5:00pm PT
September 27, 2023, 8:00pm ET | 5:00pm PT
This Chat is hosted by volunteer moderator Harriet Saxe. To learn more and register for this event, email Harriet at harriet@apbdrf.org.
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MISSED IT? Watch Kat Supa, BScPT Talk About Physiotherapy | | |
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If you missed June's Patient Chat, you can still watch the recording of our guest speaker, Kat Supa, BScPT. Kat discussed "How Physiotherapy Can Help Mitigate APBD Symptoms."
You can also watch recordings of previous Chats here.
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