12th Annual Scientific Meeting of the APBD Research Foundation

December 5-6, 2016

Program to Moderators

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Presentations

1. Using recombinant glycogen branching enzyme and structural biology techniques to understand therapeutic opportunities for APBD  – Or Kakhlon – Wyatt Yue

Abstract | Presentation 1 | Presentation 2

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2. TGMs on the interaction of WT and Y329S GBE1 with membranes: Effects on GBE1 activity and APBD pathophysiology and therapy  – Pablo Escribá

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3. Identification of therapeutic targets in an APBD Mouse model – Erin Chown

4. Antisense Oligonucleotide Therapy for Genetic Disorders – Tamar Grossman

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5. Antisense oligonucleotide therapy for APBD – Berge Minassian

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6. Research update: Generation of the mouse model of Gbe1 intronic insertion/deletion and approaches to treatments – H. Orhan Akman

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7. A feel-good moment in the realm of APBD awareness  – Nicole Schreiber-Agus

Abstract | PSA | Full Webinar
8. Summary of Duke Pediatric Medical Genetics Glycogen Storage Disease Type IV (GSD IV) Research Program (2016) – Priya Kishnani

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9. A double-blind placebo-controlled trial of triheptanoin in adult polyglucosan body disease – Raphael Schiffmann

Abstract Presentation

10. Clinical Trials of Guaiacol in Adult Polyglucosan Body Disease Patients – Alex Lossos and Or Kakhlon

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11. Combining High Throughput Screening with Image-Based Phenotyping to advance APBD drug discovery – Or Kakhlon

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12. RarePurposing – The Cures Within Reach Approach – Bruce Bloom

Abstract Presentation

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13. Guaiacol – a novel drug candidate for treating Adult Polyglucosan Body Disease – Or Kakhlon

Abstract | Presentation

14. Using recombinant glycogen synthase and structural biology techniques to understand therapeutic opportunities for APBD – Or Kakhlon – Wyatt Yue

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15. Pharmacological treatment of APBD: Potential for treatment by Ibudilast® and/or guaifenesin –  H. Orhan Akman

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16. Testing pharmacophore-based small molecules for stabilizing GBE-Y329S – Or Kakhlon

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17. Essential Groundwork – Patient Registry, Genetic Testing, Natural History Studies, Biobanks – Lori Ann Correia

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18. CAP, Columbia University APBD Patient registry – enrollment update and revised questionnaire – Raphael Schiffmann

Abstract | Presentation | Physicians Form | Participants Form

19. Experience with carrier screening for GBE1 mutations associated with Adult Polyglucosan Body Disease/Glycogen Storage Disease Type IV in the Ashkenazi Jewish and general populations – Ruth Kornreich

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20. Advances in carrier screening: Making the case for APBD – Alana Cecchi

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21. The Importance of Natural History Studies for Rare Diseases – Suzanne Rossov

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22. FDA Orphan Products Natural History Grants Program: An opportunity for Adult Polyglucosan Body Disease? -Harrison Jones

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23. A Biobank of APBD patient skin fibroblasts – Or Kakhlon

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24. Voice of the Patient.Parting Words to our Researchers, Physicians, and Genetic Specialists

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25. Jeff’s Thank you and Documentary introduction “Life through a Lens”

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26.  APBD Website Analytics report – activity since last meeting April 15th, 2015

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27. AGSDUS Association for Glycogen Storage Disease

Abstract | Presentation

28. JScreen Brochure

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29. Feedback survey

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30. New APBD Natural History Study Initiative (FAN)

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31. Explanation of FAN and CAP – Why is the APBDRF supporting a Natural History Study (FAN) and a Columbia University Patient Registry (CAP)?

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32. Thank you to Town and Village Synagogue Community

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Bios APBDRF

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