Ó³»­´«Ã½

Rokhyatou, a rising sophomore studying neuroscience with a focus in biomedical engineering at Columbia University, assessed heterogeneity in neurogenetics.

Down Syndrome (DS), the leading genetic cause of intellectual disability, results from triplication of chromosome 21, disrupting neurodevelopment. With the support, skills, and perspective I gained this summer, I was able to turn my questions into reality. My experience at the Ó³»­´«Ã½ was life-altering and eye-opening. Academic research is not just about facts and logic but feelings and emotions as well. It is feelings and emotions that drive this sense of purpose and passion into the work of a brilliant scientist, contributing to innovations, creation, and optimization. I don’t think there is an Institute out there like that of the Ó³»­´«Ã½. While prior studies have shown elevated oxidative stress in trisomic mouse models, they have not examined when these responses emerge or how they vary between individuals. To address this, we used trisomic neural progenitor cells (NPCs)—a more human-relevant model—to assess oxidative stress across developmental stages and genetic backgrounds. Cells are induced with oxidative stress, and intracellular reactive oxygen species (ROS) were measured using the DCF-DA fluorescent probe. Early-stage trisomic NPCs showed minimal ROS elevation, but later-stage cells exhibited significantly higher ROS levels compared to both untreated and euploid controls, suggesting increased stress susceptibility over time. Comparing two trisomic lines at the same early stage also revealed distinct ROS responses, while controls remained consistent—highlighting the role of individual background in DS variability. These findings suggest that non-genetic factors such as oxidative stress may help explain why people with the same trisomy show different clinical outcomes. To further explore how oxidative stress impacts brain development, we began analyzing cell cycle phases using immunohistochemistry. Since Trisomy 21 disrupts G1 and S phases—critical for cell fate decisions—this work may help identify vulnerable stages for future DS interventions.

Project: Assessing heterogeneity in response to oxidative stress in Down Syndrome neural progenitor cells

Mentor: Jenny Klein, Stanley Center for Psychiatric Research