Email

hsiaotuan.chao@bcm.edu

Positions

Assistant Professor

Department of Pediatrics-Division of Neurology and Developmental Neuroscience, Department of Molecular and Human Genetics, Department of Neuroscience
Baylor College of Medicine
Houston, TX US

Investigator

Jan and Dan Duncan Neurological Research Institute
Texas Children's Hospital
Houston, TX US

McNair Scholar

McNair Medical Institute at The Robert and Janice McNair Foundation
Houston, TX

Faculty Senator

Baylor College of Medicine

Associate Program Director, Basic Neuroscience Pathway

Department of Pediatrics
Child Neurology Residency Training Program
Baylor College of Medicine
Houston, TX US

Addresses

Texas Children's Hospital (Hospital)

Clinical Care Center, Suite 1250
Houston, TX 77030
United States

Jan and Dan Duncan Neurological Research Institute (Office)

1250 Moursund St
Houston, TX 77030
United States

Education

Residency at Baylor College of Medicine

Houston, Texas United States

Pediatric Neurology

Internship at Baylor College of Medicine

06/2013 - Houston, Texas United States

Pediatrics

MD from Baylor College of Medicine

05/2012 - Houston, Texas United States

PhD from Baylor College of Medicine

03/2010 - Houston, Texas United States

Neuroscience

BS from University of Texas at Austin

05/2002 - Austin, Texas United States

Biochemistry, summa cum laude

BA from University of Texas at Austin

05/2002 - Austin, Texas United States

Plan II Honors in Liberal Arts, summa cum laude

Honors & Awards

2020 Philip R. Dodge Young Investigator Award

https://www.bcm.edu/news/chao-awarded-philip-r-dodge-young-investigator-award

Child Neurology Society

2019 Health Care Heroes - Rising Star Award

Houston Business Journal (04/2019)

2017 STAT Wunderkind Award

STAT News (10/2017)

2017 CNS Outstanding Junior Member Award

Child Neurology Society

2017 AAN Neurology Research Scholar

American Academy of Neurology (04/2017)

2017 CNCDP-K12 Scholar

Kennedy Krieger (04/2017)

2011 Top 10 Autism Research Findings of 2010

Chao et al. Nature, 2010

Autism Speaks

2015-2016 Chief Resident

2015-2016 Co-Chief Resident with Dr. Kim Houck for Pediatric Neurology Residency Training Program

BCM Pediatric Neurology Residency

2009 Deborah K. Martin Achievement Award in Biomedical Sciences

Baylor College of Medicine

Robert and Janice McNair Foundation MD/PhD Student Scholar

Baylor College of Medicine (07/2002 - 05/2012)

Professional Interests

• Pathogenesis of neurodevelopmental and psychiatric disorders
• Integrate mouse and fruit fly models with human genomics
• Inhibitory neurons
• HADD syndrome
• New disease gene discovery

Professional Statement

As a physician-scientist, my efforts are primarily focused on understanding the genetic and neuro-physiologic underpinnings of neurodevelopmental disorders such as intellectual disability, epilepsy, autism, schizophrenia and other neuropsychiatric conditions. In particular, one emerging theme in the field is that disrupted inhibitory neuronal development and function has been found in association with many neurologic and psychiatric 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 information processing. 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 cause is only the first step. The critical advance 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 mechanistic dissection of neurodevelopmental disorders bridges molecular function to disease pathogenesis, which is crucial for the development of effective targeted therapeutics.

Our goal is to determine the role of cerebro-cerebellar excitatory and inhibitory neuronal dysfunction in the pathogenesis of neurodevelopmental and neuropsychiatric disorders by deciphering how genetic alterations perturb neurotransmission in the brain, impact neural development and lead to abnormal neurologic output. In the Chao Lab, we integrate cross-species approaches in humans to uncover the genetic etiologies of neurodevelopmental disorders, fruit flies to elucidate the molecular pathways and mice to explore the cascade of events in the mammalian brain and develop pre-clinical studies. A variety of approaches and techniques are employed in our laboratory including genetically engineered mouse and fruit fly models, functional analyses with electrophysiology, imaging, transcriptomics, molecular and cellular assays and behavioral profiling.

In addition to the laboratory research activities, I am a member of the Undiagnosed Diseases Network (UDN) and focus clinical studies on developmental epileptic encephalopathies and EIF2AK2-related and EBF3-related autism spectrum and neurodevelopmental disorders. In 2017, we established a multidisciplinary EBF3-HADDS clinic at TCH. We now follow the largest group of EBF3-related HADDS and 10q26 deletion syndrome patients to date in a single institution. Through the clinic, we conduct developmental, clinical and genetic evaluations on a yearly basis. This natural history study allows us to expand our understanding of the genotype-phenotype correlations, progression, complications and co-morbidities associated with this condition. The findings from the clinical study also inform our laboratory research efforts to understand how gene disruptions alter inhibitory and excitatory neuronal development, perturb neural network activity and lead to cognitive and behavioral abnormalities in neurodevelopmental and psychiatric disorders.

Websites

Selected Publications

• 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/March26;: Pubmed PMID: 35340043
• Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT "PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical presentation of NMIHBA syndrome: Case report and review of the literature." AJMG Part A.2022/February;Epub.: Pubmed PMID: 35194938
• Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Brady C, Chao HT, Chung H, […],Agrawal PB, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. "Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental disorders." Cell Reports.2022/March;:
• Calame DG, Hainlen M, Takacs D, Ferrante L, Pence K, Emrick LT, Chao HT "EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease." Neurology Genetics.2020/December;:

Projects

Undiagnosed Epilepsy Genetics Initiative

https://redcap.link/epilepsy

Research study for patients diagnosed with epilepsy in infancy or early childhood and previous clinical genetic testing is inconclusive. If eligible, families will receive: • No charge whole-genome sequencing (WGS) or research re-analysis of clinical WGS testing. WGS is one of the most advanced genetic testing types available today • No charge fibroblast RNA-sequencing, one of the advanced genetic testing types to interpret the WGS findings

EBF3 related disorders research study

https://redcap.link/ebf3researchstudy

Hypotonia Ataxia and Delayed Development Syndrome (HADDS) and 10q26-deletion syndrome are neurodevelopmental disorders caused by genetic changes affecting the EBF3 gene located on chromosome 10q26.3. This study aims to improve our understanding of the natural history of EBF3-related neurodevelopmental disorders and the effects on growth and development. Providers or families may visit https://redcap.link/ebf3research or the QR code (open camera app and hold phone camera up to code) to answer basic eligibility questions. A research team member will contact you.

Chromosome 10q26 disorders research study

https://redcap.link/10q26duplicationresearchstudy

10q26-deletion and duplication syndromes are neurodevelopmental disorders caused by genetic changes affecting a region located on chromosome 10q26. This study aims to improve our understanding of the natural history of chromosome 10q26 deletion and duplication neurodevelopmental disorders and the effects on growth and development. Providers or families may visit https://redcap.link/ebf3research or the QR code (open camera app and hold phone camera up to code) to answer basic eligibility questions. A research team member will contact you.

Funding

McNair Scholar Award

Unrestricted funding from McNair Medical Institute at The Robert and Janice McNair Foundation

DP5 Early Independence Award - #1DP5OD026428

(09/17/2018 Grant funding from National Institutes of Health

NIH Director's High Risk High Reward Awards Program

Career Award for Medical Scientists

(01/01/2019 Grant funding from Burroughs Wellcome Fund

Molecular and Neural Circuit Mechanisms in Autism Spectrum Disorders

(07/01/2021 Grant funding from Mark A. Wallace Endowment Award