Hsiao-Tuan Chao, MD, PhD
Medical Director, EBF3-related HADDS Clinic
Assistant Professor and McNair Scholar, Departments of Pediatrics-Neurology, Molecular and Human Genetics, Neuroscience, Baylor College of Medicine
Associate Program Director, Child Neurology Residency
Investigator, Jan and Dan Duncan Neurological Research Institute
Investigator, Undiagnosed Diseases Network, Baylor College of Medicine
Languages: English
Departments:
Get to know Hsiao-Tuan Chao, MD, PhD
Personal Statement
To work in synergy with patients, families, and the biomedical research community to advance diagnosis, prognosis, and care.
Clinical Interests:
EBF3-related Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) Clinic
Epilepsy Genetics, Autism Spectrum Disorder and related disorders, EIF2AK1/2-related disorders
Neurogenetics, Developmental Neuropsychiatric Disorders, Undiagnosed Diseases Network
Research Interests:
Hsiao-Tuan Chao, M.D., Ph.D. is an assistant professor in the Departments of Pediatrics-Neurology, Molecular and Human Genetics, and Neuroscience. She is a board-certified pediatric neurologist and physician-scientist specializing in neurogenetics and developmental neuropsychiatric disorders. Her research interests are to understand the transcriptional regulation of brain circuits and the role of specific types of brain cells in developmental neuropsychiatric disorders. The long-term goal of her research laboratory is to identify the critical cell populations and cellular pathways to target for therapeutic interventions in disorders characterized by autism, epilepsy, or cognitive impairments.
Chao earned dual bachelor’s degrees in Biochemistry and the liberal arts Plan II Honors at The University of Texas at Austin. She then obtained her medical degree and doctorate in Neuroscience at Baylor College of Medicine under the co-mentorship of Christian Rosenmund and Huda Y. Zoghbi. During this time, she revealed the cellular role of brain circuit dysfunction in Rett syndrome and MECP2-duplication syndrome. Chao subsequently completed her pediatric neurology residency through the neuroscience research pathway at Baylor College of Medicine and Texas Children’s Hospital, during which she served as chief resident. Under the post-doctoral training mentorship of Hugo J. Bellen and John Swann, Chao leveraged her scientific background in neuroscience and her clinical background in child neurology to advance our understanding of the genetic basis of brain circuit dysfunction and identify potential therapeutic avenues for childhood neurologic disorders. Her research has led to the recognition of the EBF3-related Hypotonia, Ataxia, and Delayed Development syndrome (HADDS), EIF2AK2-related Leukoencephalopathy, Delayed Development, and Episodic Regression (LEUDEN) syndrome, and EIF2AK1-related Leukoencephalopathy, Motor delay, Spasticity, and Dysarthria (LEMSPAD) syndrome. Her research laboratory is located in the Jan and Dan Duncan Neurological Research Institute and additional information on her research is below.
Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, McNair Medical Institute at The Robert and Janice McNair Foundation
Jan and Dan Duncan Neurological Research Institute
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* Texas Children’s Hospital physicians’ licenses and credentials are reviewed prior to practicing at any of our facilities. Sections titled From the Doctor, Professional Organizations and Publications were provided by the physician’s office and were not verified by Texas Children’s Hospital.
Highlights
Calame D, Hainlen M, Takacs D, Ferrante L, Pence K, Emrick LT, Chao HT. 2020. EIF2AK2-related neurodevelopmental disorder with leukoencephalopathy mimics Pelizaeus-Merzbacher disease. Neurology Genetics.
Murdock, DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Müller MF, Yépez Y, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA, Undiagnosed Diseases Network, Lee B. 2020. Transcriptome-directed genomic analysis accelerates diagnosis and overcomes limitations of exome and chromosomal microarray. Journal of Clinical Investigation PMID 33001864.
Mao D, Reuter CM, Ruzhnikov MRV, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, UDN, Lee BH, Thiffault I, Agrawal PB*, Bernstein JA*, Bellen HJ*, Chao HT*. 2020. De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation. *equal contribution. American Journal of Human Genetics PMID 32197074.
Leduc MS, Chao HT, Qu C, Magoulas P, Pan S, Beuten J, He W, Walkewicz M, Xiao R, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y. 2017. Clinical and molecular characterization of de novo loss-of-function variants in HNRNPU. American Journal of Medical Genetics Part A 173:2680-2689. PMID 28815871.
Chao HT*, Davids M*, Burke E, Pappas JG, Rosenfeld JA, McCarty A, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Johnson TK, Warr CG, UDN, Yamamoto S, Adams D, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV. 2017 (Epub 2016). A syndromic neurodevelopmental disorder caused by de novo variants in EBF3. *equal contribution. American Journal of Human Genetics 100:128-137. PMID 28017372.
Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Heintz N, Ekker M, Rubenstein J, Noebels JL, Rosenmund C, Zoghbi HY. 2010. MeCP2 deficiency in GABAergic neurons mediates abnormal social behavior and key features of Rett syndrome. Nature 468:263-269. PMID: 21068835.
Chao HT, Zoghbi HY, Rosenmund C. 2007. MeCP2 controls synaptic strength in glutamatergic neurons by regulating synapse number. Neuron 56:58-65. PMID: 17920015.