SIFM2019Videos

SIFM 2019 Video Archive

Session 1: “Presentation, Prognosis, Misconceptions & Therapies on the Horizon for STXBP1 Disorders”; Ingo Helbig, MD; The Children’s Hospital of Philadelphia

Session 2: “Secondary Mitochondrial Conditions in STXBP1 Disorders”; Amy Goldstein, MD; The Children’s Hospital of Philadelphia

Session 3: “Physical & Occupational Therapy Experience with STXBP1 & Similar Conditions”; A. Field, MOTR/L and H. Milligan, PT, MPT; The Children’s Hospital of Philadelphia

Session 4: “Using Worms to Study Changes in the STXBP1 Gene”; C. Hopkins, PhD, MBA; NemaMetrix

Session 5: “Understanding STXBP1 Disorders in Mouse Models”; W. Chen, PhD; Baylor College of Medicine

Session 6: “Studying Consequences of STXBP1 Mutations”; H. Lammertse; VU University of Amsterdam

Session 7: “STXBP1 & Genetic Reports”; K. Helbig, MS, LCGC; The Children’s Hospital of Philadelphia

Session 8: “Understanding Registries and What They Can Tell Us”; J. Bain, MD, PhD; Simons Searchlight

Session 9: ” Supporting the STXBP1 Community”; Laura Lubbers, PhD; CURE

Session 10: “Studying Drugs on STXBP1 Patient Cells”; D. Abranov, N. Guiberson & W. Parker, MD, PhD, Z. Grinspan, MD; Weills Cornell Medical College

Session 11: “Fishing for Drugs”; A. Crawford, PhD; The Institute for Orphan Drug Discovery

Session 12: “How a Drug is Developed, Tested, and Approved”; John Oldenhof,PhD; BioPharma