This project aims to develop a potential antisense oligonucleotide (ASO) treatment for MED13L Syndrome. ASOs are small lab made pieces of RNA (genetic material) that can be designed to attach to very specific parts of a gene including regions that control when and how much of the MED13L gene is turned into protein. MED13L Syndrome is primarily thought to be a haploinsufficiency condition which means that one working copy of the MED13L gene does not make enough MED13L protein for the brain to function properly.
In this project, researchers will explore ASOs that are designed to increase the amount of good MED13L protein that cells produce by blocking a small “upstream” segment of the MED13L message that appears to interfere with normal protein production. This work is an early proof of concept step to see if this type of genetic based approach can safely boost MED13L protein levels which could become a future therapeutic strategy for people with MED13L Syndrome
Watch Dr. Bourdeau’s presentation here
