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; Weill 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