Hsiao-Tuan Chao, M.D., Ph.D.

Associate Professor

Email

hsiaotuan.chao@bcm.edu

Positions

Associate 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
The Cain Pediatric Neurology Research Foundation Laboratories, 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

2022 "40 Under 40" List of Autism Researchers: Global Rising Stars in Autism Research https://www.spectrumnews.org/news/40-under-40/; Spectrum News (12/2022)

2022 Young Investigator Award: Department of Pediatrics, Baylor College of Medicine (12/2022)

2022 Inducted to Society for Pediatric Research: The Society for Pediatric Research (SPR) was founded in the 1930s as an academic society committed to fostering the research and career development of investigators engaged in creating new knowledge that advances the health and well-being of children and youth. Since that time, the SPR has emerged as the pre-eminent international society devoted to young investigators in basic science and translational research. Membership is highly competitive, limited to early-stage investigators, and requires demonstration of excellence in child health research through metrics such as extramural peer-reviewed funding and publication of original scientific manuscripts.; Society for Pediatric Research (11/2022)

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. Types of genetic alterations we study in the lab impact transcriptional regulation, protein translation, cell-type specific specification. synapse formation, and neurotransmitter release.

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 comprehensive human phenotyping and multiomics studies, 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, our team leads an Epilepsy Genetics Initiative at the Duncan NRI to identify genetic determinants of undiagnosed developmental and epileptic encephalopathies and we established a multidisciplinary EBF3-related autism spectrum, ataxia, and other neurodevelopmental disorders clinic at TCH. We now follow the largest group of EBF3-related HADDS and 10q26 deletion syndrome patients to date in a single institution and conduct comprehensive phenotypic-genotypic analysis with neurocognitive profiling and neuroimaging. Finally, we are leading a Phase 0 natural history study for STXBP1-related epileptic encephalopathy with the goal of continuing to Phase 1 gene therapy studies. The findings from the clinical studies 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

Chao Laboratory

Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, McNair Medical Institute at The Robert and Janice McNair Foundation

Chao Lab at the NRI

Jan and Dan Duncan Neurological Research Institute

Selected Publications

1) Corriveau ML*, Korb JC*, Michener SL, Owen NM, Wilson EL, Kubala J, Turner A, Takacs DS, Potocki L, Swann JW, Xue M, Dai H, Chao HT. " De novo chromosomes 3q and 5q chromothripsis leads to a 5q14.3 microdeletion syndrome presentation: Case report and review of the literature. " AJMG Part A. 2025 ;
Pubmed PMID: 39887826.
2) Hayden AN, Brandel KL, Pietryk EW, Merlau PR, Vijayakumar P, Leptich EJ, Gaytan ES, Williams MI, Ni CW, Chao HT, Rosenfeld JA, Arey RN.. " Behavioral screening reveals a conserved residue in Y-Box RNA-binding protein requried for associative learning and memory in C. elegans " PLOS Genetics. 2024 ;
Pubmed PMID: 39423228.
Saether KB, Eisfeldt J, Bengtsson J, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Blieden L, Rosenfeld JA, Liu P, Schuy J, Ameur A, Undiagnosed Diseases Network, Hwang JP, Sedlazeck FJ, Bi W, Marom R, Nordgren A, Carvalho CMB, Lindstrand. " Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps " Genome Research. 2024 ;
Pubmed PMID: 39486878.
LaFlamme CW, Tastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL,,...Chao HT...Mefford HC. " Diagnostic utility of genome-wide DNA methylation analysis in genetically unsolved developmental and epileptic encephalopathies and refinement of a CHD2 episignature. " Nat Comm. 2024 ;
Pubmed PMID: 37873138.
Copeland I, Gupta-Malhotra M, Hashmi SS, Wonkam-Tingang E, Han Y, Jajoo A, Hall NJ, Hernandez PP, Lie N, Liu D, Xu J, Rosenfeld J, Coban-Akdemir ZH, Scott DA, Chao HT, Zaske AM, Lupski JR, Milewicz DM, Shete S, Posey JE, Hanchard NA.. " Exome sequencing in childhood onset essential hypertension identifies a putative role for SYNE1 in disease pathogenesis. " JCI Insight. 2024 May ;
Pubmed PMID: 38716726.
Li S, Zhao S, Sinzon JC, Bajic A, Rosenfeld JA, Neeley MB, Pena M, Worley KC, Burrage L, Hubshman MW, Ketkar S, Craigen WJ, Clark GD,...Chao HT, Potocki L, Emrick L, ...Nagamani SCS, Liu Z, Undiagnosed Diseases Network, Eng CM, Lee B, Liu P.. " The clinical utility and diagnostic implementation of patient-cell transdifferentiation followed by RNA sequencing " AJHG. 2024 May ;
Pubmed PMID: 38593811.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA,...Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT.. " A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 " AJHG. 2024 Jan 4;
Pubmed PMID: 38181735.
Hayden AN, Brandel KL, Merlau PR, Vijayakumar P, Leptich EJ, Pietryk EQ, Gaytan ES, Ni CW, Chao HT, Rosenfeld JA, Arey RN.. " Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition. " bioRxiv. 2024 ;
Pubmed PMID: 38260399.
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.
Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O’Heir E, O’Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Amazian MS, Chao HT, ...Rosenfeld JA, Olson HE, Burrage L.. " Wide range of phenotypic severity in individuals with late truncations unique to the brain-specific transcript of CDKL5 " AJMG Part A. 2022 ;
Pubmed PMID: 35934918.
Thomas AX, Link N, Demmler-Harrison G, Mizerik E, Robak LA, Michels S, Cohen JS, Comi A...Sherr E, Hashim MO, Alkuraya F, Partlow J, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. " ANKLE2-related microcephaly: a variable microcephaly syndrome resembling Zika infection. " Ann Clin Transl Neurol .. 2022 Aug 9;
Pubmed PMID: 35871307.
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.
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 NMIHBA syndrome presentation: Case report and review of the literature. " Am J Med Genet A.. 2022 Feb ; 188 : 1868-1874.
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 Mar ;
Pubmed PMID: 35294868.
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 " Neurol Genet.. 2020 Dec ; 7 : e539.
Pubmed PMID: 33553620.
Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Muller MF, Yepez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA, Lee B. " Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing " J. Clin. Investig.. 2020 Oct ;
Pubmed PMID: 33001864.
Chung HL, Mao X, Wang H, Park YJ, Shu L, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B.. " De novo variants in CDK19 are associated with a new syndrome with intellectual disability and epileptic encephalopathy. " AJHG. 2020 Apr ;
Pubmed PMID: 32330417.
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.
Chen W, Cai ZL, Chao ES, Chen H, Longley CM, Hao S, Chao HT, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M. " Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy " eLife. 2020 Feb ;
Pubmed PMID: 32073399.
Harnish JM, Deal SL, Undiagnosed Diseases Network, Chao HT, Wangler MF, Yamamoto S. " In vivo functional study of disease-associated rare human variants using Drosophila " J. Vis. Exp.. 2019 ;
Pubmed PMID: 31498321.
Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P.......Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR. " DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. " Genet Med. 2019 Jul 2;
Pubmed PMID: 31263215.
Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Lee B, Bacino CA, Chao HT. " Recurrent mosaic MTOR c.5930C>T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature " Am J Med Genet A. 2018 Dec 18;
Pubmed PMID: 30569621.
Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y. " Clinical and molecular characterization of de novo loss of function variants in HNRNPU " Am J Med Genet A. 2017 ;
Pubmed PMID: 28815871.
Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Members of the UDN, Hieter P, Boycott KM, Campeau PM, Bellen HJ. " Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research " Genetics. 2017 Sep ;
Pubmed PMID: 28874452.
Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT......Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. " Identification of novel candidate disease genes from de novo exonic copy number variants. " Genome Med. 2017 Sep 21;
Pubmed PMID: 28934986.
Chao HT, Liu L, Bellen HJ. " Building dialogues between clinical and biomedical research through cross-species collaborations " Semin Cell Dev Biol. 2017 May 22;
Pubmed PMID: 28579453.
Wang J*, Al-Ouran R*, Hu Y*, Kim SY*, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE, Members of the UDN, Perrimon N, Liu Z, Bellen HJ. " MARRVEL: Integration of human and model organism genetic resources to facilitate functional annotation of the human genome " American Journal of Human Genetics. 2017 May 11;
Pubmed PMID: 28502612.
Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG, Undiagnosed Diseases Network, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV. " A syndromic neurodevelopmental disorder caused by de novo variants in EBF3 " American Journal of Human Genetics. 2016 Dec 22;
Pubmed PMID: 28017372.
Chang CL, Trimbuch T, Chao HT, Jordan JC, Herman M, Rosenmund C.. " Investigation of synapse formation and function in a Glutamatergic-GABAergic two-neuron microcircuit " Journal of Neuroscience. 2014 Jan ;
Pubmed PMID: 24431444.
Jiang M, Ash RT, Baker SA, Suter B, Ferguson A, Park J, Rudy J, Torsky SP, Chao HT, Zoghbi HY, Smirnakis SM.. " Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome. " Journal of Neuroscience. 2013 Dec ;
Pubmed PMID: 24336718.
Chao HT and Zoghbi HY.. " MeCP2: only 100% will do " Nature Neuroscience. 2012 Jan ;
Pubmed PMID: 22281712.
Wagnon JL, Mahaffey CL, Sun W, Yang Y, Chao HT, Frankel WN.. " Etiology of a genetically complex seizure disorder in Celf4 mutant mice. " Genes Brain Behav. 2011 Jul ;
Pubmed PMID: 21745337.
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.. " Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes " Nature. 2010 Nov ;
Pubmed PMID: 21068835.
Xue M*, Craig TK*, Xu J, Chao HT, Rizo J, Rosenmund C.. " Binding of the complexin N terminus to the SNARE complex potentiates synaptic-vesicle fusogenicity. " Nat Struct Mol Biol.. 2010 May ;
Pubmed PMID: 20400951.
Samaco RC, Mandel-Brehm C, Chao HT, Fyffe SL, Sun Y, Ren J, Hyland K, Maricich SM, Deneris ES, Greer JJ, Humphreys P, Percy A, Glaze DG, Thaller C, Zoghbi HY, Neul JL.. " Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. " Proc Natl Acad Sci.. 2009 Dec ;
Pubmed PMID: 20007372.
Rose MF*, Ren J*, Ahmad KA*, Chao HT, Klisch TJ, Flora A, Greer JJ, Zoghbi HY.. " Math1 is essential for the development of hindbrain neurons critical for perinatal breathing. " Neuron. 2009 Nov ;
Pubmed PMID: 19914183.
Chao HT, Zoghbi HY.. " The yin and yang of MeCP2 phosphorylation. " Proc Natl Acad Sci.. 2009 Mar ;
Pubmed PMID: 19293386.
Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goudling EH, Sullivan E, Tecott LH, Zoghbi HY.. " Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, anxiety, and aggression. " Neuron. 2008 Sep ;
Pubmed PMID: 18817733.
Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL.. " A partial loss of function allele of methyl- CpG-binding protein 2 predicts a human neurodevelopmental syndrome. " Hum Mol Genet.. 2008 Jun ;
Pubmed PMID: 18321864.
Chao HT, Zoghbi HY, Rosenmund C.. " MeCP2 controls synaptic strength in glutamatergic neurons by regulating synapse number. " Neuron. 2007 Oct ; 56 : 58-65.
Pubmed PMID: 17920015.
Xue M, Reim K, Chen X, Chao HT, Deng H, Rizo J, Brose N, Rosenmund C.. " Distinct domains of Complexin I differentially regulate neurotransmitter release. " Nat Struct Mol Biol.. 2007 Oct ;
Pubmed PMID: 17828276.
Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, Ekker M, Rubenstein JL, Noebels JL, Rosenmund C, Zoghbi HY. " Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.. " Nature. 2010 ; 468 : 263-9.

Projects

Undiagnosed Epilepsy Genetics Initiative: https://redcap.link/epilepsywgs; 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/ebf3hadds; 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 the RedCap link to answer basic eligibility questions. A research team member will contact you.
Chromosome 10q26 disorders research study: https://redcap.link/10q26duplication; 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 the RedCap link to answer basic eligibility questions. A research team member will contact you.
EIF2AK1 and EIF2AK2 related disorders research study: https://redcap.link/eif2ak2; LEUDEN syndrome is a neurodevelopmental and neurodegenerative disorder with leukodystrophy caused by genetic changes affecting the EIF2AK2 gene. LEMPSAD syndrome is a neurodevelopmental and neurodegenerative disorder with leukodystrophy caused by genetic changes affecting the EIF2AK1 gene. This study aims to improve our understanding of the natural history of these conditions. Providers or families may visit the RedCap link to answer basic eligibility questions. A research team member will contact you.
STXBP1-related disorders research study: https://redcap.link/stxbp1survey; The STXBP1 Clinical Trial Ready (STARR), is a study focused on developing clinical trial readiness for STXBP1-related disorders, an epileptic and neurodevelopmental condition caused by changes in the STXBP1 gene. STXBP1-related disorders are one of the most common genetic causes of childhood epilepsies. Providers or families may visit the RedCap link to answer basic eligibility questions. A research team member will contact you.
PPFIA3 related disorders research study: https://redcap.link/ppfia3; PPFIA3-related neurodevelopmental disorders is caused by genetic changes affecting the PPFIA3 gene. This study aims to improve our understanding of the natural history of PPFIA3-related neurodevelopmental disorders and the effects on growth and development. Providers or families may visit the RedCap link to answer basic eligibility questions. A research team member will contact you.
A Clinical Trial of CAP-002 Gene Therapy in Pediatric Patients With Syntaxin-Binding Protein 1 (STXBP1) Encephalopathy: Texas Children's Hospital; Inquiries: Contact chao-lab@bcm.edu https://www.clinicaltrials.gov/study/NCT06983158?term=NCT06983158&rank=1 A Phase 1/2a, Open-Label, Multi-Center, Dose-Escalation Trial to Assess Safety, Tolerability, and Efficacy of a Single Dose of CAP-002 Gene Therapy Administered to Pediatric Patients With Syntaxin-Binding Protein 1 (STXBP1) Encephalopathy

Funding

Molecular and Cellular Mechanisms of Cerebellar Dysfunction in Neurodevelopmental disorders #1R01NS134596 - 01A1: (07/16/2024); Grant funding from NIH NINDS

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

Undiagnosed Epilepsy Genetics: (10/01/2020); Cain Pediatric Neurology Research Foundation

Molecular and Neural Circuit Mechanisms in Autism Spectrum Disorders: (07/01/2021); Grant funding from Mark A. Wallace Endowment Award

EBF3-related HADDS and 10q26 deletion syndrome: (07/01/2021); Gift funding from EBF3 HADDS Foundation

STXBP1 Clinical Trial Readiness Natural History Study (STARR): (07/01/2024); Grant funding from STXBP1 Foundation