Duncan NRI Hsiao-Tuan Chao, MD, PhD
Assistant Professor, Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Department of Molecular and Human Genetics, Department of Neuroscience, Baylor College of Medicine
Principal Investigator, the Jan and Dan Duncan Neurological Research Institute and The Gordon and Mary Cain Pediatric Neurology Research Foundation Laboratories at Texas Children’s Hospital
McNair Scholar, McNair Medical Institute at the Robert and Janice McNair Foundation
Contact Information
Phone: 832-825-0373
Email: hsiaotuan.chao@bcm.edu
Research focus
Transcriptional regulation of neural networks, inhibitory neurobiology in health and disease, neurodevelopmental and neuropsychiatric disorders (HADD syndrome, autism, and epilepsy)
Get to know Hsiao-Tuan Chao, MD, PhD
Neurodevelopmental disorders encompass a broad constellation of conditions including intellectual disability, epilepsy, autism, schizophrenia, and other neuropsychiatric conditions. These conditions are often co-morbid and share many overlapping clinical features, suggesting that despite etiologic differences there may be commonalities in mechanisms of disease. One emerging theme in the field is that disrupted inhibitory neuronal development and function is found in association with many neurodevelopmental disorders. This would be consistent with the growing body of knowledge that inhibitory neurons are highly diverse and key for virtually all aspects of neurobiology from neural circuit development to modulating neuronal activity to information processing. Disrupted inhibition perturbs the balance between excitatory and inhibitory signaling, resulting in aberrant neural circuit activity that is reflected by changes in cognition, emotion, and behavior. Therefore, elucidating the genetic etiologies of inhibitory neuronal development and function has great potential to advance our understanding of inhibitory neurobiology in health and disease. However, determining the genetic underpinnings is only the first step. The critical advances needed for translation of human genetic studies into clinical applications is to identify the consequences of genetic alterations at the molecular, cellular, neural network, and whole-organism levels. This detailed mechanistic dissection of neurodevelopmental disorders will bridge molecular function to disease pathogenesis, which is crucial for the development of effective targeted therapeutics.
In the Chao Lab, we integrate mechanistic studies of well-defined single gene neurodevelopmental disorders with cross-species approaches in humans to uncover the genetic etiologies, fruit flies to elucidate the molecular pathways, and mice to explore the cascade of events in the mammalian brain. A wide variety of approaches and techniques are employed in our laboratory including genetically engineered mouse and fruit fly models, structural and functional analyses with electrophysiology, confocal and super-resolution imaging, transcriptomics, molecular and cellular assays, and comprehensive behavioral profiling. Our goal is to determine the role of inhibitory dysfunction in the pathogenesis of neurodevelopmental disorders by deciphering how genetic alterations perturb inhibition in the brain, impact neural development, and lead to abnormal neurologic output.
2019 - McNair Faculty Scholar, McNair Medical Institute, Baylor College of Medicine
2018 - Burroughs Wellcome Fund Career Award for Medical Scientists
2018 - “The Short Read”, profiled in Frontline Genomics
2017 - STAT News Wunderkind Award, STAT News
2017 - Child Neurology Society Outstanding Junior Member Award
2017 - Child Neurology Career Development Program Scholar, Kennedy Krieger Institute
2017 - AAN Neurology Research Training Scholar, American Academy of Neurology
2016 - AAN Child Neurology Annual Meeting Scholarship, American Academy of Neurology
2015- 2016 - Chief Resident, Pediatric Neurology Residency, Baylor College of Medicine
2015 - Leadership for Women Travel Award, Breakthroughs in Neurology Conference, American Academy of Neurology
2014 - Department of Pediatrics Award for Best Research Poster Presentation, Baylor College of Medicine
2012 - Best Performance in Medical School Award, Medical Scientist Training Program, Baylor College of Medicine
2012 - Drs. Benjamin and Margarie Mo Scholar, Chinese American Doctors Association of Houston
2011 - Top 10 Autism Research Findings of 2010, Autism Speaks
2011 - Best Publication of 2010 Award, Department of Molecular and Human Genetics, Baylor College of Medicine
2010 - Houston Livestock Show and Rodeo Outstanding Community BRASS Scholar, Baylor College of Medicine
2010 - Commencement speaker, Graduate School of Biomedical Sciences, Baylor College of Medicine
2010 - BCM Alumni Association Outstanding Student Award, Baylor College of Medicine
2009 - Deborah K. Martin Achievement Award in Biomedical Sciences, Baylor College of Medicine
2008 - Best Oral Presentation of 31st Annual Scientific Symposium, MSTP, Baylor College of Medicine
2007 - Best Publication Award, Medical Scientist Training Program, Baylor College of Medicine
2006 - Trentin Scholar, Graduate School of Biomedical Sciences, Baylor College of Medicine
2004 - 2010 - Baylor Research Advocates for Student Scientists (BRASS) Scholar, Baylor College of Medicine
2002 - 2012 - McNair Student Scholar, Medical Scientist Training Program, Baylor College of Medicine
2002 - Alumni Scholarship, Baylor College of Medicine
2002 - Special Honors in Plan II Honors, University of Texas at Austin
2001 - 2002 - Distinguished College Scholar, University of Texas at Austin
2001 - Ira Iscoe Endowed Presidential Scholarship, Plan II Honors Program, University of Texas at Austin
2000 - 2002 - Deans’ Scholars Honors Program, College of Natural Sciences, University of Texas at Austin
2000 - Banks Scholarship in Chemistry, Dept. of Chemistry and Biochemistry, University of Texas at Austin
2000 - Schumacher Memorial Scholarship, Plan II Honors Program, University of Texas at Austin
1999 - Half-Century Longhorns Scholarship, Ex-Students’ Association, University of Texas at Austin
1999 - 2022 - Piper Scholar, Minnie Stevens Piper Foundation
- 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, Members of the 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.
- Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N....Scheffer IE, Carvill GL, Mefford H, UDN, Bacino CA, Lee BH, Chao HT "Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy." medRxiv. 2023 Mar 29; Pubmed PMID: 36528028. Am J Hum Genet. 2024 Jan 4
- Corriveau M*, Amaya S*, Koebel MC*, Lerma VC, Michener S, Turner A, Schultz RJ, Seto E, Diaz-Medina G, Craigen WJ, Swann JW, Xue M, Chao HT. "PAK1 c.1409T>A (p.Leu470Glu) de novo variant disrupts the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.." AJMG Part A. 2023 Mar 11; Pubmed PMID: 36905087
- Paul MS*, Duncan AR*, Genetti C, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A...Shaked BP, Ortal B, Zeev BB, Torti E, Schwan K, Aycinena AP, Banka S, Douzgou S, Jackson A, Pirt H, Ismayilova N, Pan H, Chao HT*,^, Agrawal PA*,^ "Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.." Am J Hum Genet. 2022 Dec 15; Pubmed PMID: 36528028
- Deisseroth CA, Lerma VC, Magyar CL, Pfliger JM, Nayak A, Bliss ND, LeMaire AW, Narayanan V, Balak C, Zanni G, Valente EM, Bertini E, Benke PJ, Wangler MF, Chao HT "An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain." Annals of Neurology. 2022 Mar 26;92:138-153. Pubmed PMID: 35340043
- 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, Kuery S...Undiagnosed Diseases Network, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT "De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation." Am J Hum Genet.. 2020;106:570-583. Pubmed PMID: 32197074
- View all publications from the Chao lab here
