Research

Summary

At CureGSD1b our primary goal is to help develop new therapies, treatment options, and eventually a cure for GSD1b. There are steps that we are taking as an organization that will help enable this, including the implementation of an Online Patient Registry database, which we are calling the GSD1b Data Collection Program. We have a small patient population, but one that spans the globe. This is an easy way to make our data accessible to researchers across the globe. The more participation and more diversity the more useful this will be for us and for researchers. If you are a patient or caregiver, please register on our home page. If you are a researcher looking for access to our data, please reach out to Jamas LaFreniere at jamas@sophieshopefoundation.org

CureGSD1b is interested in supporting research directly related to GSD1b. This can be basic science to help us continue to expand our understanding of GSD1b and translational research to help take what we know about GSD1b and develop treatments and eventually a cure. CureGSD1b is committed to helping guide and stimulate research related to GSD1b.

Announcing a New GSD1b Mouse Model

In collaboration with Jackson Laboratories and Dr Brunetti-Pierri we are working to develop a new mouse model for GSD1b. The new mouse model will be significantly easier to work with and publicly available to anyone across the globe. This will be a new Conditional Knockout model that will remove a significant barrier to GSD1b research. The existing full knockout mouse model is incredibly labor intensive and difficult to work with. By working with Jackson Laboratories, we will ensure that this model is available to anyone in a quick and efficient manner. For more details or access please contact Jamas LaFreniere at jamas@sophieshopefoundation.org

Grants Awarded

Request a Research Grant

Please send an email to Jamas@sophieshopefoundation.org to present your idea and receive a copy of our grant request requirements and form. Please provide a summary explaining how your research would benefit the GSD1b community and what the expected outcomes and deliverables would be.

mRNA Replacement Therapy

mRNA replacement therapy presents a great treatment opportunity for GSD1b and is an area of focus for CureGSD1b. We are currently working closely with Dr Brunetti-Pierri on the mouse study. Please see details of the ongoing study below: Click Here

Learn more about mRNA Therapy and its use in rare diseases here: Click Here

Gene Editing

Gene editing aims to be a one-time therapy that directly edits pieces of DNA within the cell. It’s considered a type of gene therapy, which is the use of genetic material to treat or prevent disease. Gene editing has great potential to cure rare genetic disease like GSD1b. Learn more here about gene editing: Click Here
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