Jose
Jose
Brooke Charter School
Boston, MA
Mentor:
Kate Stalnaker
Stanley Center for Psychiatric Research | Pan Lab
Jose joined the ӳý Summer Scholars Program eager to gain experience with experimental neuroscience techniques that directly link genetic variation to functional outcomes. At the Stanley Center, he worked alongside fellow scholar Dylan to study eight missense variants in the CACNA1A gene, which encodes the CaV2.1 calcium channel — a critical protein for neurotransmitter release at synapses. Changes in this channel’s activity have been tied to a range of neurological conditions, including epilepsy, episodic ataxia, and familial hemiplegic migraine.
Jose helped culture HEK cells engineered to express each CACNA1A variant along with accessory proteins needed for proper channel assembly. Once the cells were prepared, he used the high-throughput SyncroPatch 384PE automated patch clamp system to record calcium currents and analyze electrophysiological properties. This required careful preparation of solutions, precise timing during cell handling, and attention to maintaining stable recordings — all skills that demand patience and consistency.
The team’s results showed that four variants (V714M, S1799L, A1508D, A222V) decreased calcium current density, suggesting a loss-of-function (LOF) effect, while four others (L618S, V1393M, A713T, A1508T) increased current density, indicative of gain-of-function (GOF) changes. By pairing these functional insights with clinical associations from prior studies, Jose’s work helps clarify how specific genetic mutations in CACNA1A may contribute to disease mechanisms.
Through this project, Jose learned how electrophysiology experiments are designed, executed, and interpreted, as well as how collaborative science benefits from each team member’s contributions. His hands-on work generated data that will inform ongoing research into the molecular basis of neurological disorders.
Reflecting on the program, Jose said, “BSSP was a once-in-a-lifetime opportunity… Everyone was welcoming and encouraged me to go beyond my limit.” The experience gave him not only technical expertise in cell culture and electrophysiology but also a deeper appreciation for the power of teamwork in driving scientific discovery.
