Understanding glycogen storage disease type 1b and its impacts.
Summary
Glycogen Storage Disease Type 1b (GSD1b) is a rare genetic disorder that has a huge impact on patients’ lives and the lives of their families. People with GSD1b cannot effectively access the glucose needed to fuel themselves, leading to severely low blood sugar and life-threatening infections among other complications. Current treatments, such as frequently consuming cornstarch, provide some help to those with GSD1b, but new treatments are greatly needed. Sophie’s Hope Foundation are dedicated to helping find a much-needed cure for this rare disease.
Researcher Profile
Jamas LaFreniere - Sophie’s Hope Foundation: Founder, President and Sophie’s Dad
Blair Stone-Schneider - Sophie’s Hope Foundation: Director of Patient Engagement and Advocacy