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2026

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Best Female Scientists

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Genetics

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Research.com Recognitions

  • 2026 - Research.com Genetics in United States Leader Award
  • 2025 - Research.com Best Female Scientists Award
  • 2025 - Research.com Genetics in United States Leader Award
  • 2024 - Research.com Genetics in United States Leader Award
  • 2023 - Research.com Genetics in United States Leader Award
  • 2020 - The Brain Prize, Lundbeck Foundation for their fundamental and pioneering work on Rett syndrome.
  • 2018 - Fellow of the American Academy of Arts and Sciences
  • 2018 - Fellow, National Academy of Inventors
  • 2017 - Canada Gairdner International Award
  • 2017 - Breakthrough Prize in Life Sciences for discoveries of the genetic causes and biochemical mechanisms of spinocerebellar ataxia and Rett syndrome, findings that have provided insight into the pathogenesis of neurodegenerative and neurological diseases.
  • 2016 - Jessie Stevenson Kovalenko Medal, US National Academy of Sciences For her pioneering contributions to the fields of neurodegenerative proteinopathies, autism spectrum disorders, epigenetics, and developmental biology by coupling clinical observation and gene discovery with focused, in-depth mechanistic study.
  • 2011 - Gruber Prize in Neuroscience, Society for Neuroscience
  • 2007 - Perl-UNC Prize, University of North Carolina at Chapel Hill Discovery of the Genetic Basis of Rett Syndrome.
  • 2006 - Robert J. and Claire Pasarow Foundation Medical Research Award
  • 2004 - Member of the National Academy of Sciences
  • 2003 - W. Alden Spencer Award, College of Physicians and Surgeons
  • 2002 - Fellow of the American Association for the Advancement of Science (AAAS)
  • 2000 - Member of the National Academy of Medicine (NAM)
  • 1996 - E. Mead Johnson Award, Society for Pediatric Research

Overview

Huda Y. Zoghbi is affiliated with Baylor College of Medicine in the United States. Their research covers key areas within biochemistry, genetics, molecular biology, and neuroscience, with a substantial body of work focusing on molecular biology and genetics as well as cellular and molecular neuroscience. The scientist's productive output spans topics related to genetics and neurodevelopmental disorders, autism spectrum disorder research, genetic neurodegenerative diseases, mitochondrial function and pathology, RNA research and splicing, RNA regulation and disease, and neurogenesis and neuroplasticity mechanisms.

Their recent publications include the following papers:

  • "Parkinson's Disease Genetics and Pathophysiology", 2021, Annual Review of Neuroscience
  • "Optimizing Nervous System-Specific Gene Targeting with Cre Driver Lines: Prevalence of Germline Recombination and Influencing Factors", 2020, Neuron
  • "Insufficient Evidence for "Autism-Specific" Genes", 2020, The American Journal of Human Genetics
  • "Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies", 2020, The Lancet Neurology
  • "Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy", 2020, eLife

Frequent co-authors in their research collaborations include:

  • Zhandong Liu
  • Harry T. Orr
  • Mark A. Durham
  • Alexander J. Trostle
  • Sameer S. Bajikar

The scientist's work is often published in well-established venues such as bioRxiv (Cold Spring Harbor Laboratory), Neuron, eLife, The American Journal of Human Genetics, and eNeuro.

Zoghbi's recognition in the scientific community includes a variety of awards and honors over the years:

  • The Brain Prize, Lundbeck Foundation (2020) for work on Rett syndrome
  • Fellow, National Academy of Inventors (2018)
  • Fellow of the American Academy of Arts and Sciences (2018)
  • Canada Gairdner International Award (2017)
  • Breakthrough Prize in Life Sciences (2017) for discoveries related to spinocerebellar ataxia and Rett syndrome
  • Jessie Stevenson Kovalenko Medal, US National Academy of Sciences (2016) for contributions in neurodegenerative proteinopathies, autism spectrum disorders, epigenetics, and developmental biology
  • Gruber Prize in Neuroscience, Society for Neuroscience (2011)
  • Perl-UNC Prize, University of North Carolina at Chapel Hill (2007) for discovery of the genetic basis of Rett syndrome
  • Robert J. and Claire Pasarow Foundation Medical Research Award (2006)
  • Member of the National Academy of Sciences (2004)
  • W. Alden Spencer Award, College of Physicians and Surgeons (2003)
  • Fellow of the American Association for the Advancement of Science (AAAS) (2002)
  • Member of the National Academy of Medicine (NAM) (2000)
  • E. Mead Johnson Award, Society for Pediatric Research (1996)

Best Publications

  • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

    Ruthie E. Amir;Ignatia B. Van den Veyver;Mimi Wan;Charles Q. Tran

  • Towards a proteome-scale map of the human protein–protein interaction network

    Jean François Rual;Kavitha Venkatesan;Tong Hao;Tomoko Hirozane-Kishikawa

  • MeCP2, a key contributor to neurological disease, activates and represses transcription.

    Maria Chahrour;Sung Yun Jung;Chad Shaw;Xiaobo Zhou

  • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

    Harry T. Orr;Ming yi Chung;Sandro Banfi;Thomas J. Kwiatkowski

  • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

    R. C. Allen;H. Y. Zoghbi;A. B. Moseley;Howard Rosenblatt

  • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α(1A)-voltage-dependent calcium channel

    Olga Zhuchenko;Jennifer Bailey;Penelope Bonnen;Tetsuo Ashizawa;Tetsuo Ashizawa

  • Trinucleotide Repeat Disorders

    Harry T. Orr;Huda Y. Zoghbi

  • Glutamine Repeats and Neurodegeneration

    Huda Y. Zoghbi;Harry T. Orr

  • The DNA sequence of the human X chromosome

    Mark T Ross;Darren V Grafham;Alison J Coffey;Steven Scherer

  • The Story of Rett Syndrome: From Clinic to Neurobiology

    Maria Chahrour;Huda Y. Zoghbi

  • Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

    Hsiao Tuan Chao;Hongmei Chen;Rodney C. Samaco;Mingshan Xue;Mingshan Xue

  • Math1: an essential gene for the generation of inner ear hair cells.

    Nessan A. Bermingham;Bassem A. Hassan;Steven D. Price;Melissa A. Vollrath

  • Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.

    Ivan A Klement;Pamela J Skinner;Michael D Kaytor;Hong Yi

  • Requirement of Math1 for Secretory Cell Lineage Commitment in the Mouse Intestine

    Qi Yang;Nessan A. Bermingham;Milton J. Finegold;Huda Y. Zoghbi

  • Chaperone suppression of ataxin-1 aggregation and altered subcellular proteasome localization imply protein misfolding in sca1

    Huda Y Zoghbi;Harry T Orr;Donald B Defranco;Michael A Mancini

  • Diseases of unstable repeat expansion: mechanisms and common principles.

    Jennifer R. Gatchel;Huda Y. Zoghbi

  • A Protein–Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration

    Janghoo Lim;Tong Hao;Chad Shaw;Akash J. Patel

  • Mice with Truncated MeCP2 Recapitulate Many Rett Syndrome Features and Display Hyperacetylation of Histone H3

    Mona D. Shahbazian;Juan I. Young;Lisa A. Yuva-Paylor;Corinne M. Spencer

  • Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

    Huda Y. Zoghbi;Mark F. Bear

  • Postnatal neurodevelopmental disorders: meeting at the synapse?

    Huda Y. Zoghbi

Frequent Co-Authors

Harry T. Orr
Harry T. Orr University of Minnesota
Juan Botas
Juan Botas Baylor College of Medicine
Christian P. Schaaf
Christian P. Schaaf Baylor College of Medicine
Hugo J. Bellen
Hugo J. Bellen Baylor College of Medicine
Jeffrey L. Neul
Jeffrey L. Neul Vanderbilt University Medical Center
Chad A. Shaw
Chad A. Shaw Baylor College of Medicine
Arthur L. Beaudet
Arthur L. Beaudet Baylor College of Medicine
Roy V. Sillitoe
Roy V. Sillitoe Baylor College of Medicine
Sandro Banfi
Sandro Banfi University of Campania "Luigi Vanvitelli"
James R. Lupski
James R. Lupski Baylor College of Medicine

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