Imagine: after 9 months, you’re in a hospital, welcoming your newborn baby. That very first moment you pick her up and put her on your arm, you thought your life would be different, and you’re right! Except not in the way you expected.
For the first few years of her life she was not standing, walking, or talking, when other children were shouting and running around. Soon after, she developed seizures and heart conditions. You went to physician after physician seeking an answer for exactly what is going on with her. But, they replied with endless therapies, surgeries, and medications–NOT to cure, just to control the conditions. Only after 12 years, did you find an answer. She has a mutation somewhere in her DNA. She is diagnosed with Kleefstra syndrome, a disease that affects only one in 23 million people in the world. There is no cure. This is a story of a family with Kleefstra Syndrome, and my research aims to better understand what exactly is going on with Kleefstra patients. After all, without knowing what the problem is, one can not solve any problem.
To understand this disease, one would have to observe its progression way before the patients are even born. This is not possible. Instead, I use stem cells, a very special kind of cell that can transform into any type of cells or organs in our body. I genetically modified these stem cells to carry the exact same mutations that we see in Kleefstra patients. So, essentially what I have here is the exact tiny replica of a Kleefstra patient growing in a dish. By directing these stem cells to transform into a particular cell type, I am able to investigate how, when, and why these cells eventually went rogue during development. What I’ve found is that these stem cells with the Kleefstra mutation have an extremely hard time maturing and transforming themselves into tissue-specific cell types (such as brain). Not only do they not function as brain cells, they don’t even look like brain cells. This could explain why these patients eventually develop conditions such as intellectual disability, seizures, and epilepsy as they grow up. My finding will eventually serve as one of the first stepping stones in finding a solution to this problem. But more importantly, I could eventually go back to these families with an answer as to what exactly is going on with their little ones.
By: Malvin Jefri