Targeting Neurodevelopmental Abnormalities in Down Syndrome

Summary

Every question has a story, and every story starts with a person - my uncle. My uncle has Down syndrome but to a greater extent, he is not able to walk, talk, or see like others, other people with Down syndrome. My primary explanation was centered on the neurodevelopmental differences these people face. I dove slightly deeper into this topic

Down syndrome is the associated presentation of symptoms from an extra copy of chromosome 21 resulting in malformations in intellectual ability, behavior, and physical development. Much progress has been made towards understanding substance and supporting treatments, but still not much has been achieved in treating the pharmacological side of brain development. I reviewed studies that involved human iPSC models, mouse brain imaging, and finally allele-specific CRISPR work. These studies indicated correcting the up-regulated genes in the brain may remediate the patterns leading to embattles on developmental differences likely seen in some individuals with Down Syndrome.

Yet, gene editing can raise ethical concerns in this case, especially as we consider it in the context of complex neurological identities. The potential is amazing, but so is the responsibility. This project is not only a data-collecting exercise. It is a measure of hope and a chance to offer them a beter quality of life.

iPSC-Derived Organoids for Neurodegenerative Disease Modeling and Therapy

(Figure representation created by the author: Lina Kartal)

Impact Statement

Lina Kartal

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Hi! I'm Lina. I learned how the brain grows and how genetic conditions like Down syndrome affect it. I didn’t know much about CRISPR-Cas9 before, but now I understand why people use it. Also, iPSCs were new for me, like I had heard the name but didn’t understand until now. I read some papers, but they were hard. I think I understood most of it, but not all. I made a research poster, not perfect, but I tried. Some terms were confusing, but I tried to explain them as good as I could. The project helped me with thinking and doing things more organised (I used to start things way too late). I feel more interested now in research stuff, and I think I want to study in this area. So yeah, it helped me a lot in many ways.

Student Reflection

By: Lina Kartal. The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of Elio Academy.