Dylan
Dylan
Quincy High School
Quincy, MA
Mentor:
Mentor: Kate Stalnaker
Stanley Center for Psychiatric Research | Pan Lab
Dylan joined the ӳý Summer Scholars Program eager to explore how tiny changes in DNA can ripple outward to affect brain function and health. At the Stanley Center, he worked on understanding the functional effects of missense mutations in the CACNA1A gene, which encodes the CaV2.1 calcium channel — a protein critical for controlling neurotransmitter release in the brain. Variants in CACNA1A have been linked to a spectrum of neurological disorders, including epilepsy, episodic ataxia, and familial hemiplegic migraine.
Partnering with fellow scholar Jose, Dylan evaluated eight different CACNA1A variants by comparing them to the wild-type channel. He cultured HEK cells engineered to express each variant along with accessory proteins, ensuring proper channel assembly and stability. Using the high-throughput SyncroPatch 384PE automated patch clamp system, he measured calcium currents, current density, and other electrophysiological parameters to determine whether each variant caused a gain of function (GOF) or loss of function (LOF).
His data revealed that four variants (V714M, S1799L, A1508D, A222V) reduced current density, consistent with LOF effects seen in disorders like episodic ataxia. Four others (L618S, V1393M, A713T, A1508T) increased current density, indicative of GOF changes associated with familial hemiplegic migraine. These results help clarify the molecular consequences of specific CACNA1A mutations and contribute to the Stanley Center’s ongoing effort to link genetic variation with neuronal physiology.
Dylan also learned the importance of quality control in electrophysiology — from maintaining healthy cell cultures to ensuring stable recordings — and gained confidence interpreting complex datasets. His work lays the foundation for future experiments exploring how these functional changes impact neuronal signaling and patient symptoms.
“Thanks to BSSP, I was able to grasp how interdisciplinary science truly is… BSSP created a community that thrives off collaboration,” Dylan reflected. The experience not only deepened his understanding of ion channel biology but also confirmed his passion for pursuing science that integrates molecular, cellular, and systems-level perspectives.
