Project Title
Physiological and molecular signatures in mouse models of MED13L syndrome
Overview
Mice? Really, mice? Yes! Dr. Chad Grueter is the leading mouse man for MED13L. MED13L is part of a larger complex that triggers the transcription of 1000s of genes. A very similar gene MED13, is also part of this complex. Mutations in MED13L and MED13 have a lot of similar clinical features and mechanisms, as well as unique ones that we don’t understand. Through research performed in Dr Grueter’s lab using mouse models, we have gained a greater understanding of MED13 in heart function and we are determined to understand functions of MED13L using mice too!
Dr Grueter, with funding from the MED13L Foundation for the next 2 years, will be evaluating the development of both MED13 and MED13L mutations with variants that are similar to ones documented in humans. Additionally, he is working to develop tissue specific MED13L mutant mice. This means we will be able to better understand how the brain, heart, and specific signaling pathways responsible for development and other important functions in the body are disrupted by changes in MED13L. Once complete, Dr. Grueter will look to test specific drugs in the Med13L mice to see if it can improve the behavior, endurance, or other functions of the mice.
Mice matter because we can compare what happens to them to help us see and understand what happens in kids with MED13L in a controlled setting. These mouse studies have been funded through the generous donations of the MED13L Community!
