IPRD funded research by Yi Zhou
Developmental and Epileptic Encephalopathies: Developmental and Epileptic Encephalopathies (DEEs) are a group of rare pediatric seizures accompanied by developmental delay and intellectual disability. The majority of DEEs are associated with inherited or de novo mutations of a heterogeneous group of genes. Recent evidence shows that mutations of the YWHAG gene may be a causal factor for DEE. However, how YWHAG mutations cause childhood epilepsy and hinder intellectual development is not known. YWHAG encodes the gamma isoform of 14-3-3, a family of homologous signaling proteins that are abundantly expressed in the brain and implicated in a number of neurological and neuropsychiatric disorders. We have developed and characterized several genetic and viral-mediated 14-3-3 mouse models, and demonstrated that deficiency of all 14-3-3 isoforms in mouse brains results in various alterations at molecular, synaptic and behavioral levels. In this project, we will develop and validate novel animal and human cellular models of disease-associated YWHAG mutation for investigation of the molecular and neurobiological bases of DEEs.
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Dr. Yi Zhou, Ph.D., a professor in the Department of Biomedical Sciences at the FSU College of Medicine was awarded a grant by the Florida Department of Health via its Rare Pediatric Diseases Research Grant Program . Dr. Zhou describes his research on Developmental and Epileptic Encephalopathies, a rare pediatric disease and the role IPRD funding played in the development of this innovative research program.
Q&A with Dr. Zhou:
Q#1: Could you please give me a brief overview of the research project that was recently funded by the Florida Department of Health’s Rare Pediatric Diseases Research Grant program?
A#1: This FDOH grant is to support our study on how mutations of a specific gene, called YWHAG, can cause a rare pediatric disease, which is referred to as Developmental and Epileptic Encephalopathies (DEESs). DEEs are a group of rare pediatric seizures accompanied by significant developmental delay or intellectual disability. We propose to develop and validate both animal and human cellular models to investigate the impact of a specific YWHAG mutation on neuronal activity and brain development.
I would like to add that this project is in collaboration between us, Dr. Richard Nowakowski, and Dr. Yan Li in FSU college of Engineering. One of my graduate students, Violet Bodycot, will be leading this research.
Q#2: What is the ultimate goal of this research?
A#2: The ultimate goal of this project is to discover the molecular and neurobiological basis of this rare pediatric disease. We hope that, In the future, our studies will help identify novel therapeutic targets and strategies for treating this rare and debilitating disease.
Q#3: Why did you decide to pursue this research?
A#3: This research was driven by recent human studies showing that mutation of the YWHAG gene is one of the causal factors for the Developmental and Epileptic Encephalopathies (DEEs) in children. It turns out that YWHAG encodes the gamma isoform of the 14-3-3 family of proteins, which is a major research focus of our laboratory for many years. I recently joined the research advisory board of the YWHAG Research Foundation, that seeks to raise awareness and educate the public on the YWHAG genetic mutation, while supporting the families affected by this mutation.
Q#4: How has IPRD’s support helped you?
A#4: The financial support from the FSU institute of Rare pediatric diseases (IPRD) is crucial for us to initiate this new research direction. The funding from IPRD allowed us to conduct several experiments and acquire important preliminary data, which were essential for us to obtain further funding from the Florida Department of Health.