Huda Y. Zoghbi, M.D. Contact Information: Huda Y. Zoghbi, M.D. One Baylor Plaza Room T809 Houston, TX 77030-2399 Tel: 713-798-6523 Fax: 713-798-8728 e-mail: hzoghbi@bcm.edu

Title:
Professor, Departments of Molecular and Human Genetics, Pediatrics, Neurology, and Neuroscience, Baylor College of Medicine, Houston, Texas
Programs in Cell & Molecular Biology and Developmental Biology
Investigator, Howard Hughes Medical Institute

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Education:
American University of Beirut/Meharry Medical College - M.D.
Beirut Medical School, Lebanon - B.S. & Med. I
Baylor College of Medicine - Postdoctoral Training

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Current Positions in Professional Organizations:

• Member - Alpha Omega Alpha
• Member - American Academy of Neurology
• Member - American Neurological Association
• Member - American Society of Human Genetics
• Member - Child Neurology Society
• Member - The Society for Pediatric Research
• Member - Society of Neuroscience
  

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Research Interests:

• Genetic and cell biological approaches to explore the pathogenesis of Rett syndrome and autistic spectrum disorders, polyglutamine neurodegenerative diseases, and to study genes essential for normal neurodevelopment.

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Current Research & Funding:

• Principal investigator: Molecular Studies in Spinocerebellar Ataxia Type 1. Sponsored by NIH/NINDS. The goal of this study is to advance our understanding of the mechanism(s) mediating neuronal degeneration in spinocerebellar ataxia type 1 (SCA1) and to translate basic research findings into preclinical trials in SCA1 mouse models.
• Molecular Pathogenesis of Rett syndrome.  Sponsored by NIH/NICHHD. The overarching goal is to gain insight into the molecular pathogenesis of Rett syndrome.  Specifically, we are interested in understanding how dysfunction of MeCP2 causes a broad spectrum of neuropsychiatric phenotypes seen in Rett syndrome and related disorders. Towards this goal we are studying the consequences of loss of MeCP2 in specific neurons, and are pursuing the identification of genes that are misregulated when Mecp2 levels/activities are either decreased or increases.
• Principal investigator: Genetic Approaches to Study Neuronal Function and Dysfunction. Sponsored by the Howard Hughes Medical Institute. Goals are to study (1) pathogenesis of SCA7 and SCA6 polyglutamine disorders through the generation and characterization of mouse models for SCA6 and SCA7 and the study of the mechanism of neurodegeneration; (2) functional analysis of genes essential for nervous system development using a cross species approach. We are studying the function of mouse atonal homologue (Math1) in neurodevelopment and gut development.  So far when have shown that it is essential for the genesis of several groups of neurons in the proprioceptive and auditory pathways, inner hair cells, and secretory cells in the gut. We are now studying the role of Math1 in brainstem development and in CNS control of breathing and pursuing its transcriptional targets.
• Principal investigator: Mental Retardation Research Center. Sponsored by NIH/NICHHD. Goals are to advance understanding of molecular basis and pathogenesis of several human diseases that cause developmental disabilities and/or mental retardation; identify the basis of several MRDD disorders; improve diagnosis; develop an animal model for these human disorders; identify the genes that are essential for normal development; and make new advances in gene therapy research.

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Selected Publications:

• Lim J, Hao T, Shaw C, Patel A, Szabó G, Rual J-F, Fisk CJ, Li N, Smolyar A, Hill D, Barabási A-L, Vidal M, and Zoghbi HY. (2006). A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell, 125:801-14.(pdf)
• Tsuda H, Jafar-Nejad H, Patel AJ, Sun Y, Chen H-K, Rose MF, Venken KJT, Botas J, Orr HT, Bellen HJ, Zoghbi HY (2005). The AXH domain of ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/senseless proteins. Cell 122: 633-644. (pdf)
• Wang VY, Rose MF, Zoghbi HY (2005). Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum. Neuron 48: 31-43.
• Chen H-K, Fernandez-Funez P, Acevedo SF, Lam YC, Kaytor MD, Fernandez MH, Aitken A, Skoulakis EMC, Orr HT, Botas J, Zoghbi HY (2003). Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell 113: 1-12. (pdf)
• Shahbazian MD, Young YI, Yuva-Paylor LA, Antalffy BA, Spencer CM, Noebels JL, Armstrong DL, Paylor R, Zoghbi HY (2002). Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35: 1-20.
• Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, David Sweatt J, Zoghbi HY (2004). Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum. Mol. Genet. 13: 2679-2689. (pdf)