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©1998-2020 Baylor College of Medicine® | One Baylor Plaza, Houston, Texas 77030 | (713)798-4951Have an edit or suggestion for this page? We created a mouse model that expresses the glutamine-expanded Ataxin-1 under the control of endogenous locus (knock-in SCA1 mice) and found that this model recapitulates all features of SCA1. Contact. If requested before 2 p.m. you will receive a response today. This model predicts that most proteins that interact with wild-type Ataxin-1 should interact with the mutant protein and that modifications of Ataxin-1 that might alter its conformation are critical to pathogenesis. Davut Pehlivan, MD, Instructor of Neurology at Texas Children’s Hospital, studies translational neuroscience because of the kids with brain disorders he has seen in the clinic. Huda Zoghbi wants to understand the mechanisms underlying brain development and degeneration. Parameters-J Known Junctions data base in bed format.-G Genome model directory containing respective alternativ splicing, gene model and Junction database files.Data for DM3, MM9, MM10, HG19, HG38 are provided. Male Mecp2308 mice appear normal up to six weeks of age, when they develop tremors, seizures, coordination problems, social behavior abnormalities, and forepaw stereotypies similar to the hand-wringing seen in patients. She is also an investigator at the Howard Hughes Medical Institute and the director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children's Hospital. 1. For other genome builds please use this MakeGeneModel script to generate the annotation model files. Baylor College of Medicine will be closed on Monday, Jan. 18 in observance of Martin Luther King, Jr. Day. The laboratory uses genetic, biochemical, and cell biological approaches to explore the pathogenesis of polyglutamine neurodegenerative diseases and Rett syndrome, and to study genes essential for normal neurodevelopment. A new computational tool has been designed to make the life of bench scientists easier when it comes to identifying genes that are involved in particular diseases, an arduous and time consuming process. In addition we are performing genetic and biochemical studies to gain better insight about the in vivo function of the native Ataxin-1 complexes and the role of Capicua in the nervous system. We generated a mouse model by creating a mutation that truncates the protein post–amino acid 308. Huda Y. Zoghbi (Howard Hughes Medical Institute, Baylor College of Medicine) epigenetic and transcription regulation in neural development and diseases. The elevation of the Crh level in the Mecp2308 mice could explain the anxiety-like phenotype and the exaggerated poststress corticosterone response in these animals. Leben. Peggy Goodell (Stem Cells and Regenerative Medicine, Baylor College of Medicine) DNA methylation in normal and malignant hematopoiesis. Have an edit or suggestion for this page. Even in her education, the war could have disrupted her path to where she is today. Die Leiterin Huda Zoghbi, deren Labor feststellte, dass Mutationen an MECP2 das Rett-Syndrom auslösen, stellt sich ein Forschungszentrum vor, wo Wissenschaftler mit verschiedenen Interessen in einem Umfeld des kontinuierlichen und interdisziplinären Austauschs arbeiten können. The excessive MeCP2 protein made by the extra copy of the gene severely affects brain function. In collaboration with Harry Orr's group (University of Minnesota), we determined that the mutation responsible for SCA1 is an expansion of a CAG trinucleotide repeat encoding glutamine in the protein Ataxin-1. Postdoctoral fellow, Huda Zoghbi lab, Baylor College of Medicine, Houston, TX Michael Borten mab7sp@virginia.edu: Undergraduate Student (2014–2016) Lab Specialist (2016–2017) Medical Student, University of Virginia Joey Bose, MS joey.bose@cytonics.com: Undergraduate Student (2008–2011) Lab specialist (2011-2012) However, she would not allow it. We are studying both the Mecp2308 and overexpression mice to identify the neuron-specific expression and splicing changes that result from MeCP2 dysfunction. America's fourth largest city is a great place to live, work and play. Post Doc in Dr. Huda Zoghbi's lab : Carlos Orozco. ©1998-2020 Baylor College of Medicine® | One Baylor Plaza, Houston, Texas 77030 | (713)798-4951Have an edit or suggestion for this page? That a single gene controls the genesis and/or differentiation of multiple components of the proprioceptive pathway was a surprise. We isolated the mouse atonal homologue 1 (Math1) because of the importance of atonal for the development of balance and hearing organs in Drosophila. Email. In her career, Zoghbi faced many obstacles. She and her classmates ate in the hospital cafeteria, which they accessed through an underground tunnel. Dr. Huda Y. Zoghbi’s lab works hand-in-hand with The Blue Bird Circle Rett Center at Texas Children’s Hospital to provide cutting edge treatment for girls and women with Rett syndrome. We are currently investigating several protein interactions within the network to gain better insight about SCA1 pathogenesis and the pathogenesis of other poly-glutamine diseases such as SCA6 and SCA7. doi: 10.7554/eLife.19809. Learn more about research in the Huda Zoghbi Lab. Huda Yahya Zoghbi (geborene Huda El-Hibri; * 20. In her laboratory at Baylor College of Medicine, Dr. Huda Zoghbi and her colleagues have found two neuronal lineages in the hindbrain that act as ‘conductors’ of an exquisite biological symphony. The glutamine tract seems to mediate its toxicity by modulating the activity of the AXH domain. hzoghbi@bcm.edu. She started her studies in biological sciences and did one year of medical school at the American University of Beirut in Lebanon. In the Lab. In 1999, we discovered that Rett syndrome is caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2). Females may present with isolated mental retardation, autism, or milder forms of Rett if they have favorable X-chromosome inactivation. Fall 2019 (Oct-Dec) Nisha Gupta . October 2, 2020. This suggested to us that the nuclear inclusions are probably protective by sequestering the glutamine-expanded protein and reducing its native interactions. Fox Photos/Getty Images. Our analysis of SCA1 transgenic mice revealed that the mutant protein aggregates in the nuclei of cerebellar Purkinje cells and that these aggregates stain positively for ubiquitin, the proteasome, and some chaperones. Outdoors, the Lebanese civil war raged, making daily trips between home and lectures too dangerous. Genetic studies in mice and fruit flies have shed the most light on SCA1 pathogenesis. Moreover, several of the direct physical interactors are modifiers of disease phenotypes in animal models. Huda Zoghbi Lab Lab Members; Research Areas; Publications; Contact Us; Baylor College of Medicine; Research; Labs and Centers; Faculty Labs; Huda Zoghbi Lab; Research Areas; Navigation . Our ultimate goal is to correlate phenotypes to specific neurons and to identify the gene expression changes within such neurons that could be modulated to modify the phenotypes. Juni 1954 in Beirut) ist eine libanesisch-US-amerikanische Neurologin. Addgene is a nonprofit plasmid repository dedicated to improving life science research. UTD Green Fellow. Although there was considerable interest in MeCP2, the protein only really gained the spotlight in 1999, when Huda Zoghbi’s lab at Baylor College of Medicine in Houston identified it as the protein involved in Rett syndrome, a severe and progressive brain disorder (Amir et al., Nature Genetics 1999). If requested before 2 p.m. you will receive a response today. Start of Lecture 3 (00:11) From The Howard Hughes Medical Institute the 2003 Holiday Lectures on Science. The laboratory uses genetic, biochemical, and cell biological approaches to explore the pathogenesis of polyglutamine neurodegenerative diseases and Rett syndrome, and to study genes essential for normal neurodevelopment. Rotation Student. Get in touch. This led us to propose that protein misfolding or impaired protein clearance might be critical in SCA1 pathogenesis. Find out why.Get to Know Houston. 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