Current Research Funding Priorities:
Our current research funding priorities include the Spermine Prodrug Project and the Whole Genome Sequencing Project.
The Spermine Prodrug Project is led by Dr. Otto Phanstiel and his colleagues at the University of Central Florida. Snyder-Robinson Syndrome (SRS) is caused by a mutation of the SMS gene. This gene makes an enzyme called spermine synthase, which helps the cells to produce a necessary chemical called spermine. This enzyme doesn’t function properly in the cells of individuals with SRS. Researchers believe that the problems caused by SRS may be mitigated by introducing spermine into the cells. Dr. Phanstiel’s Prodrug Project is an effort to develop a compound that will introduce spermine into the cells in a safe, effective, and non-toxic manner. For more information about this project, please visit our SRS Virtual Conference at https://www.snyder-robinson.org/conference2020/ and view Dr. Phanstiel’s presentation. Registration is required to view the video, but there is no cost to register. Snyder-Robinson Foundation needs to raise about $35,000 to complete the Spermine Prodrug and test it in our SRS mouse models. Our goal is to raise these funds and start this project by the end of this year!
The Whole Genome Sequencing Project was proposed by Dr. Cornelius Boerkoel from the Department of Medical Genetics at the University of Vancouver. SRS has a very wide range of presentation in affected individuals. Some individuals are high-functioning and others have a more severe presentation. Sequencing the entire genome maps the person’s DNA. The sequencing tests of individuals in our Natural History Study (and their parents) should help us understand why the varies so greatly. Hopefully, it will also help inform us which individuals with SRS are likely to benefit from various treatments. Finally, we expect that this project will give us a better overall understanding of SRS and its disease mechanisms, which in turn will help us to develop safe and effective treatments. The cost of whole genome sequencing is about $2,000 per individual.
2) Write a Check:
If you would like to write a check to The Snyder-Robinson Foundation, please make it out to: The Snyder-Robinson Foundation and mail it to th address below:
The Snyder-Robinson Foundation c/o Michael Raymond 1443 Layman Street McLean, VA 22101 USA For questions or special requests, you may contact Michael at: email@example.com. The SRF is a 501c(3) organization.
3) Other Ways to Support Us:
The Snyder-Robinson Foundation participates in the annual Million Dollar Bike Ride to fund scientific research and medical advancements for SRS and other rare diseases. You can support SRS research by making a donation to the Team SRS! Million Dollar Bike Ride.
4) Amazon Smile:
The SRF uses Amazon Smile to support daily operating expenses and administrative fees. Please consider using this venue, when making Amazon purchases, to support the SRF. The proceeds of each sale directly support the SRF.