What happens in the brain when a gene critical to learning and memory malfunctions? Neuroscientist Gavin Rumbaugh, Ph.D., a scientist at The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, is on a mission to find out—and to translate his discoveries into life-changing treatments.
Who is Professor Gavin Rumbaugh?
Professor Rumbaugh is a neuroscientist who studies developmental disorders including autism and intellectual disability, focusing on a critical brain gene called SYNGAP1. This gene helps brain cells communicate effectively, forming the connections we need to think, learn, and adapt. When SYNGAP1 isn’t functioning properly, it can lead to profound challenges, from cognitive impairment to epilepsy.
What is SYNGAP1?
SynGAP stands for Synaptic Ras GTPase-activating protein 1. It is a vital protein located at the junctions between neurons, a type of brain cell. These neuron junctions are referred to as “synapses.” SynGAP regulates the brain’s adaptability by dialing in the strength of these synapse connections during new experiences. This is an essential process underlying learning and memory. Proper SynGAP levels in brain cells maintain the balance between exciting the neurons and quieting them, ensuring effective communication within the brain.
Why it matters:
Certain genetic changes, or mutations, within the SYNGAP1 gene are linked to a rare genetic condition called SYNGAP1-related intellectual disability. This can profoundly affect a child’s development. The condition often involves:
- Developmental delays
- Intellectual disabilities
- Autism spectrum traits
- Epilepsy
The Science:
Professor Rumbaugh’s lab combines cutting-edge neuroscience with drug discovery. Recently, his team received a grant from the National Institute of Mental Health to develop a pill able to boost the brain’s natural ability to change with experience, storing experiences as memories. The Rumbaugh lab aims to restore the SYNGAP1 gene to normal function and improve brain’s ability to adapt and form new connections.
The Big Idea:
“The brain is incredibly resilient,” Rumbaugh says. “Our goal is to tap into that resilience and give people with SYNGAP1-related disorders the tools their brain needs to thrive.”
Beyond the Bench:
Known for his collaborative spirit, Professor Rumbaugh fosters a creative, supportive environment in his lab. He also balances science with his love of the outdoors, often finding inspiration during sunrise walks on Jupiter’s beaches. His ability to connect with nature mirrors his work: finding balance and harmony in complex systems.
What’s Next:
Professor Rumbaugh’s research could open doors for treating a variety of brain disorders. By understanding a core mechanisms of learning and memory, he hopes to not only improve outcomes for SYNGAP1-related conditions, but also create a framework for tackling other genetic brain disorders.
The Takeaway:
Professor Gavin Rumbaugh’s work isn’t just about understanding the brain—it’s about giving hope to families around the world. His innovative research brings us closer to a future where genetic brain disorders are treatable.
Content Contributed by Patricia Izbicki, Ph.D.