Dr. Hsiao-Tuan Chao, an instructor of pediatrics - neurology at Baylor College of Medicine and a postdoctoral researcher at the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, has been named a 2017 STAT Wunderkind.
Chao, who also is the associate program director for the basic neuroscience track in pediatric-neurology at Baylor, is one of 27 researchers honored, out of hundreds of nominations from across the country, as trailblazers in their respective fields by integrating innovative cross-disciplinary approaches in medicine, science, and technology. She is being recognized for her work on GABA-signaling pathways and how they relate to Rett syndrome and other childhood neurological disorders.
These inhibitory (gamma-amino-butyric-acid [GABA]-ergic) neurons make up only 15 to 20 percent of the total number of neurons in the brain, but are critical for many neurobiological processes from neuronal development to synaptic connectivity and information processing. Loss of genes that regulate transcriptional networks, such as MeCP2 or EBF3, perturb GABA signaling in the brain, which may ultimately contribute to neurological impairments in the associated human conditions.
As an M.D./Ph.D student in the lab of Dr. Huda Zoghbi, director of the NRI and professor of molecular and human genetics, neurology, neuroscience, pediatrics at Baylor and an investigator with the Howard Hughes Medical Institute, Chao developed a new mouse model that allowed researchers to remove MeCP2 from only GABAergic neurons, reproducing almost all the symptoms of Rett syndrome and uncovered a critical role for GABA dysfunction in the pathogenesis of Rett syndrome.
Currently, Chao is a postdoctoral physician-scientist in the lab of Dr. Hugo Bellen, professor of molecular and human genetics at Baylor and an investigator with the Howard Hughes Medical Institute, where her work continues to focus on exploring how single gene changes that alter transcriptional networks can affect how neurons communicate in the brain. She is combining experimental approaches in fruit fly and mouse models with human sequencing to elucidate the disease mechanisms of highly prevalent neurological conditions such as autism, intellectual disability, and epilepsy.
Most recently, Chao and her colleagues (an international team of researchers) identified variants in the gene EBF3 as being related to developmental disorders with features common in autism and intellectual disability. They discovered new recurrent mutations in this gene in patients presenting with a newly described syndrome involving developmental delay, coordination problems, limited facial expressions at an early age and abnormal verbal communication and social behaviors, among other impairments. This finding is helping to better understand the biological mechanisms underlying these complex neurologic conditions and opens the possibility of providing answers to other undiagnosed patients with similar clinical disorders.
STAT, a national publication focused on finding and telling compelling stories about health, medicine and scientific discovery, created the STAT Wunderkind award to recognize early career researchers and doctors blazing new trails in biomedical research and public health.