Rare Daily Staff
The RDM Positive Impact Foundation is funding a $1.25 million research project at the University of California, Davis’ MIND Institute, a collaborative hub for preclinical and clinical research on neurodevelopmental disability, to study the rare genetic neurodevelopmental condition SYNGAP1.
SYNGAP1-related non-syndromic intellectual disability is caused by a variation in the SYNGAP1 gene, which contains instructions for making a protein (SynGAP). This protein is located at the junctions between nerve cells, called synapses, and helps regulate changes important for memory and learning. The protein also helps regulate communication between neurons. The condition causes seizures, intellectual disability and developmental delays. About half of all SYNGAP1 patients have an autism diagnosis.
Ron Mittelstaedt, executive chairman of the solid waste and recycling company Waste Connections, runs the RDM Positive Impact Foundation with his wife Darin. The family also operates Toogood Estate Winery in Somerset. The Mittelstaedts have donated millions of dollars to organizations that help children over the past 15 years.
About three and-a-half years ago, Ron Mittelstaedt’s best friend died, leaving behind three sons and their families. He describes himself as a surrogate dad, and now a surrogate grandfather. One of those “grandsons” was diagnosed with a SYNGAP1 mutation a year and-a-half ago.
With the family’s support, Mittelstaedt is providing funding to the MIND Institute to advance research about the syndrome.
“The reality is, like many rare conditions, there aren’t a lot of great options. So, we’re trying to find potentially life-changing treatment that hopefully may impact the lives of people with SYNGAP1,” he said.
Mittelstaedt previously served on the MIND Institute’s inaugural National Council of Visitors (then called the MIND Institute Advisory Council) and funded a successful research project that developed a blood test for Tourette syndrome.
The MIND Institute’s interventional genetics team includes faculty who specialize in multiple research areas. The researchers will work on parallel tracks, each contributing a piece of the puzzle.
“We’re not just trying to treat the symptoms of the disease with a drug,” said David Segal, member of the UC Davis Genome Center. “We are trying to change the underlying genetic condition, and our particular approach is to do that in a way that does not change the DNA sequence. We use tools to change the gene expression instead, which we think will make safer therapies. It’s really a state-of-the-art approach. It’s molecular therapy.”
Photo: David Segal of the UC Davis Genome Center works in his lab