12th Annual Scientific Meeting of the APBD Research Foundation
December 5-6, 2016
Program to Moderators
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
2. TGMs on the interaction of WT and Y329S GBE1 with membranes: Effects on GBE1 activity and APBD pathophysiology and therapy – Pablo Escribá
3. Identification of therapeutic targets in an APBD Mouse model – Erin Chown
4. Antisense Oligonucleotide Therapy for Genetic Disorders – Tamar Grossman
5. Antisense oligonucleotide therapy for APBD – Berge Minassian
6. Research update: Generation of the mouse model of Gbe1 intronic insertion/deletion and approaches to treatments – H. Orhan Akman
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
9. A double-blind placebo-controlled trial of triheptanoin in adult polyglucosan body disease – Raphael Schiffmann
10. Clinical Trials of Guaiacol in Adult Polyglucosan Body Disease Patients – Alex Lossos and Or Kakhlon
11. Combining High Throughput Screening with Image-Based Phenotyping to advance APBD drug discovery – Or Kakhlon
12. RarePurposing – The Cures Within Reach Approach – Bruce Bloom
13. Guaiacol – a novel drug candidate for treating Adult Polyglucosan Body Disease – Or Kakhlon
14. Using recombinant glycogen synthase and structural biology techniques to understand therapeutic opportunities for APBD – Or Kakhlon – Wyatt Yue
15. Pharmacological treatment of APBD: Potential for treatment by Ibudilast® and/or guaifenesin – H. Orhan Akman
16. Testing pharmacophore-based small molecules for stabilizing GBE-Y329S – Or Kakhlon
17. Essential Groundwork – Patient Registry, Genetic Testing, Natural History Studies, Biobanks – Lori Ann Correia
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
20. Advances in carrier screening: Making the case for APBD – Alana Cecchi
Abstract | Presentation
21. The Importance of Natural History Studies for Rare Diseases – Suzanne Rossov
Abstract | Presentation
22. FDA Orphan Products Natural History Grants Program: An opportunity for Adult Polyglucosan Body Disease? -Harrison Jones
23. A Biobank of APBD patient skin fibroblasts – Or Kakhlon
24. Voice of the Patient.Parting Words to our Researchers, Physicians, and Genetic Specialists
25. Jeff’s Thank you and Documentary introduction “Life through a Lens”
26. APBD Website Analytics report – activity since last meeting April 15th, 2015
27. AGSDUS Association for Glycogen Storage Disease
28. JScreen Brochure
29. Feedback survey
30. New APBD Natural History Study Initiative (FAN)
31. Explanation of FAN and CAP – Why is the APBDRF supporting a Natural History Study (FAN) and a Columbia University Patient Registry (CAP)?
32. Thank you to Town and Village Synagogue Community
Bios APBDRF