WILLIAMSBURG — A new community event aims to raise awareness of a rare genetic condition while supporting families and research efforts.
The Sprint for SYNGAP1 5K will take place on April 25 in Williamsburg, organized in part by William & Mary Ph.D. student Sarah Sakly. The event is designed to “bring runners, families, and communities all together to help support SYNGAP1,” Sakly said.
SYNGAP1-related disorders are a rare genetic condition that affects brain development and neurological function.
“It’s a rare genetic condition that has both developmental and epileptic aspects to it, so it’s not just a neurodevelopmental disorder,” Sakly said. She explained that the condition involves “constant epileptic activity that actually just gets worse over the developmental outcome.”
“The only way to be able to diagnose it is via genetic testing, so that alone is a huge barrier to why it’s undiagnosed a lot of times,” she said about the challenges of getting diagnosed. “It’s a spontaneous mutation, so it’s on chromosome 6,… and it’s usually not inherited from the parents,” Sakly said. The mutation affects a protein in the brain, leading to disrupted communication between neurons and contributing to challenges in learning and memory.
Sarah explained how SYNGAP1 is a lifelong diagnosis and how it is complex in the way it progresses. She also states how many individuals also experience severe intellectual disability.
“A lot of patients actually do not get past the intellectual age of two years old, and a lot of them are nonverbal,” she added.
Sakly’s connection to the disorder is personal. Her brother’s experience helped shape both her academic path and her advocacy work.
“My little brother, for example, is 15, and he is still nonverbal,” she said. “He’s actually the core of my research for my PhD.” She added, “Because of my little brother, I was introduced to this huge community of people who go through similar struggles that my parents go through every day.”
That connection ultimately inspired the 5K, stating how it has been a dream of hers for a while. The race is dedicated to two children affected by the disorder: Sakly’s brother, 15-year-old Qusay, and 3-year-old Mora. Mora’s mother, Sara Driscoll, is Sakly’s co-organizer.
Beyond raising funds, the event seeks to increase awareness of a condition that remains largely unknown.
“It’s kind of a word-of-mouth disorder at this point,” Sakly said. “If you hear about it, you might tell someone else, and then someone else might tell someone else.”
Currently, there are under 2,000 diagnoses in the entire world, emphasizing the need for broader recognition. The financial burden associated with the disorder is also significant when one realizes the costs of medical care and the cost of research.
Sarah says proceeds from the event will help support research and advocacy efforts for SYNGAP1.
“The goal is to hopefully kind of have something every year for them to help them and just get the word out there every year that this is a disorder, that people need to be educated about it, advocate, learn,” she said.
She also encourages community members to get involved.
“This event that’s coming up is a great way to donate. You can walk it, you can run it if you live in Williamsburg,” Sakly said.
For families facing a SYNGAP1 diagnosis, Sakly offered a message of support: “The road is long, and a lot of times it’s going to feel scary. Reach out because there will always be someone in your community to help you through this.”
For more information about SYNGAP1, visit curesyngap1.org
