GSD1b Family Contact Registry – Developed a questionnaire in 7 seven languages to connect and count over 200 GSD1b patients (and counting) in 30 + countries.
Research – Funded our first GSD1b project w/ $13,000 grant to Maaike Oosterveer in Netherlands.
GSD1b Data Collection Platform – Went live with GSD1b’s first and only Online Patient Registry in partnership with Rare-X and Global Genes.
Global Genes – Became a founding member of the Global Genes Foundation Alliance.
Drug Development Conference – Attended the Global Genes and UPenn Rare Disease Drug Development Symposium in Philadelphia, PA.
New GSD1b Mouse Model – Partnered with Jackson Laboratory and Dr Nicola Brunetti-Pierri to develop a new GSD1b conditional knockout mouse model. This is a significant accomplishment and removes a major barrier to GSD1b research and will reduce the time needed to develop therapies and a cure. The mouse will be publicly available in the Spring of 2023.
GSD1b Strong Patient Spotlight Series and Blog – Introduced a new project to highlight GSD1b patients and families.
Research – Retrospective Natural History Study – Approved and began funding a multi-year grant under the leadership of Dr Kishnani at Duke University. This will be a multi-year retrospective Natural History Study to help us continue to better understand and characterize GSD1b. This data will also be critical as we push towards drug development and human clinical trials. The total grant awarded by SHF over 2 years is approximately $150,000. Jonah’s GSD1b Research Foundation also committed approximately $50,000 to this project to complete the funding.