I believe that our supporters should only donate to the Snyder-Robinson Foundation if all three of the following conditions are met:
- The donor believes in the mission of the Foundation;
- The donor believes that we are spending donated funds wisely; and
- The donor is in a financial position to make the donation.
The CZI grant is an incredible help to the Foundation. Per CZI guidelines, these funds will be used for “capacity building” rather than for direct funding of research projects. This includes hiring two part-time staff, software that will be used to manage the biobank, phenotyping the mouse models created by JAX, and microgrants for patients to be seen at Spectrum Health.
To see exactly how our funds are spent, please visit our website at snyder-robinson.org. Our annual budgets and tax returns may be found in the “About Us” section of the website. I’m also happy to provide additional details or information upon request.
We have added three options for donors to choose from on the “Donate Now” section of the website, including the option to donate to specific research projects. Donors may also specify how their gifts may be used in the memo section of checks. The options are as follows:
Option One – My gift is unrestricted and may be used for whatever purpose the Foundation believes is most important.
Option Two – Please use my gift exclusively for your current research funding priorities.
Option Three – Please use my gift for welcome packages for newly diagnosed families, including language translations services.
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 presentations 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.