“Copper in Crisis: The Molecular Pathway Behind Menkes Disease,” investigates the severe impact of a single genetic mutation on the human body. This project breaks down the complex science behind Menkes Disease, a rare X-linked disorder, by focusing on its root cause: a dysfunctional ATP7A protein. Viewers will visually learn how this single protein is responsible for the entire body’s copper distribution and how its failure leads to a devastating paradox—a toxic buildup of copper in some tissues and a critical starvation of it in the brain.The core of the video is a side-by-side comparison that clarifies this complex process. The video aimed to create a resource that is both scientifically accurate and accessible, highlighting why understanding this pathway is essential for developing future treatments like gene therapy. To bring this molecular story to life, I combined clear, AI-driven narration from Fliki with custom-designed scientific illustrations from BioRender, ensuring the complex biology was both engaging and easy to understand for students, medical professionals, and researchers.

Citations: 

1. Cerrillo, S. (2025) Copper ATP7A in Menkes. https://app.biorender.com/illustrations/68f59669ec6b87069d63fdf1

2. “Menkes Disease: Copper in Crisis.” Fliki AI, uploaded by Sonia Cerrillo, November 7, 2025, https://app.fliki.ai/editor/68f58ee5235a13b611d81099

3. “Menkes disease: new aspects of genetics and treatment.” Kaler, S.G., February 2011, https://pubmed.ncbi.nlm.nih.gov/21221114/

4. “ATP7A-Related Copper Transport Disorders.” Kaler, S.G., January 24, 2019, https://www.ncbi.nlm.nih.gov/books/NBK1413/