Project Title

Exploring the Impact of Disease Modifying Compounds in MED13L Patient-Derived Cell Lines

Overview

If you read Dr Kang’s bio, you may wonder why MED13L. In this community, when we find good humans we ask for help. The Kang lab has been a huge partner with the neurodevelopmental disorders under COMBINEDBrain, a key partner for the MED13L Foundation. 

Dr. Kang’s lab is hard at work validating customized antibodies, a key tool needed to be able to specifically identify MED13L protein. You’ve seen antibodies at work already! If you’ve ever had a COVID test show up positive, that line is an antibody that is recognizing the COVID virus in your body. Researchers studying MED13L want the same pink line to show up for them! The current commercial antibodies don’t do this consistently so the MED13L Foundation contracted a company with the support of researchers to create an antibody that can specifically find MED13L. Dr Kang’s lab with a grant from MED13L Foundation is ensuring that these antibodies can detect MED13L consistently. 

Additionally, the Kang Lab will be also using these antibodies to then validate if a currently available drug, 4-phenylbutyrate, impacts MED13L in 12 different individual cell lines with MED13L. Dr Kang has already found 4-phenylbutyrate to be effective in both cells and mice in other neurodevelopmental disorders. It is safe, studied in kids with urea cycle disorder, and effective. While we don’t completely understand how it is working in neurodevelopmental disorders, it seems to be effective and well-tolerated.   

This one-year project was funded by the MED13L Foundation in June of 2023 with the community’s generous support.

Contributors

Dr. Jing-Qiong (Katty) Kang is an associate professor specialized in epilepsy in the Vanderbilt University Department of Neurology since September 2016. She is also a faculty member in Vanderbilt Brain Institute, Vanderbilt Kennedy Center and Pharmacology at Vanderbilt University School of Medicine. 

Dr. Kang has been invited to present her work in multiple institutes and conferences nationally and internationally. Most recently, she has spoken at American Epilepsy Meeting (AES), Fukuoka University Medical School, Case Western Reserve University, Beijing Tiantan Neurosurgery Summit. She has been the chair for Basic Mechanisms and Neuroscience symposium at the AES meeting from 2015-2018. Dr. Kang is an award recipient of Citizens United for Research in Epilepsy (CURE), Dravet.org (formerly known as IDEA-League), Dravet syndrome foundation (DSF) and National Institute of Neurological Disorders and Stroke (NINDS). She is currently leading a large effort for developing treatment options for GABA transporter 1 encoding SLC6A1 mediated epilepsy and neurodevelopmental disorders.