huda zoghbi lab

Immigrants make the journey to the United States for a number of reasons. Dr. Huda Zoghbi mentoring a colleague in her lab. She started her studies in biological sciences and did one year of medical school at the American University of Beirut in Lebanon. ©1998-2020 Baylor College of Medicine® | One Baylor Plaza, Houston, Texas 77030 | (713)798-4951Have an edit or suggestion for this page? October 2, 2020. 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. Our analysis of the cellular distribution of MeCP2 during development determined that MeCP2 is in mature neurons and that the number of MeCP2-positive cortical neurons increases up to 10 years of age in humans. We tested this hypothesis in cells, fruit flies, and mice and found that indeed chaperone overexpression mitigates SCA1 neuropathology and phenotypes. Identification of the Math1-dependent neurons allowed us to propose that Math1 redefines the rhombic lip and its derivatives. Start of Lecture 3 (00:11) From The Howard Hughes Medical Institute the 2003 Holiday Lectures on Science. Huda Zoghbi 2011 Neuroscience Prize. America's fourth largest city is a great place to live, work and play. Huda Yahya Zoghbi (geborene Huda El-Hibri; * 20. Working primarily in mouse models and humans, Zoghbi and her team study the activities of proteins involved in neuropsychiatric disorders such as Rett syndrome, MECP2 duplication syndrome, and mania. Fall 2019 (Oct-Dec) Lupita Rios . Find out why.Get to Know Houston. This led us to propose that protein misfolding or impaired protein clearance might be critical in SCA1 pathogenesis. Lab Members . In the Lab. To determine the anatomical substrates for the various Rett phenotypes we are generating mice that lack MeCP2 in specific neurons. 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. Lastly, we recently found that the Ataxin-1 paralog (Ataxin-1 like) can suppress neurodegeneration in the SCA1 knock-in mice by displacing Ataxin-1 from its native complex facilitating its sequestration into inclusions. Research Area: Pathogenesis of neurodegenerative disease, Rett syndrome, normal neurodevelopment, Ataxin-1, Akt, Mouse models (PI: Huda Zoghbi)... Huda Zoghbi Lab Skip to main content “He loved learning, and he always pushed my sister and brothers and me to read,” Zoghbi recalls. 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). UTD Green Fellow. 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. 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. Fall 2019 (Oct-Dec) Nisha Gupta . Pehlivan first encountered some of these kids during his pediatric neurology rotation at the University of Istanbul School of Medicine in his native Turkey. For other genome builds please use this MakeGeneModel script to generate the annotation model files. Addgene is a nonprofit plasmid repository dedicated to improving life science research. 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. Dr. Huda Zoghbi is the Ralph D. Feigin professor at Baylor College of Medicine, an investigator at the Howard Hughes Medical Institute, and the director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital. “I was encountering a lot of patients who had devastating neurological problems, and many of them were genetic,” she recalls. 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. 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) Rotation Student. Even in her education, the war could have disrupted her path to where she is today. Years ago, the lab of Dr. Huda Zoghbi together with the lab of Dr. Harry Orr at University of Minnesota discovered that mutations that repeat a region of the gene lead to SCA1, a condition in which the cerebellum wastes away, typically leading to progressive deterioration of motor coordination and balance, and difficulties with swallowing and breathing. Importantly, from this model we learned that neurons that develop nuclear inclusions last are the most vulnerable. Recently we discovered that Math1 also controls multiple components of the auditory and vestibular pathways, and within the cerebellum it controls the genesis of some deep cerebellar neurons in addition to granule neurons. 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. Phone. 713–798–6558. ©1998-2020 Baylor College of Medicine® | One Baylor Plaza, Houston, Texas 77030 | (713)798-4951Have an edit or suggestion for this page? In males, the inactivating mutations cause severe neonatal encephalopathy and death in infancy, whereas milder mutations may cause mental retardation, motor dysfunction, and psychosis. Baylor College of Medicine will be closed on Monday, Jan. 18 in observance of Martin Luther King, Jr. Day. 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. The glutamine tract seems to mediate its toxicity by modulating the activity of the AXH domain. $1,485,949 AWARDED. Call today to schedule an appointment or fill out an online request form. Moreover, several of the direct physical interactors are modifiers of disease phenotypes in animal models. Huda Zoghbi, MD | Baylor College of Medicine. Huda Yahya Zoghbi (Arabic: هدى الهبري الزغبي Hudā al-Hibrī az-Zughbī; born 1954), born Huda El-Hibri, is a Lebanese-born American geneticist, and a professor at the Department of Molecular and Human Genetics, Baylor College of Medicine. Publications . Rotation Student. 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. Sharon Y. Dent (Center for Cancer Epigenetics, M. D. Anderson Cancer … Find out why.Get to Know Houston. Genome annotation related files including junction database (known … Recognizing the importance of protein interactions for mediating SCA1 pathogenesis, and given that SCA1 shares clinical and pathological features with several other inherited ataxias, we proposed that understanding the interactions of Ataxin-1 as they relate to the interactions of proteins implicated in other ataxias might provide better insight about molecular mechanisms leading to Purkinje cell degeneration and ataxia. This proved to be the case. Huda Zoghbi: A lab of her own October 20, 2014 October 7, 2016 Momentum 0 Comments Dr. Arthur Beaudet, Dr. Huda Zoghbi, Dr. Ralph Feigin, Education, Genetics, Howard Hughes Medical Institute Investigator, molecular and human genetics, Neuroscience, pediatrics, Research, Rett Syndrome, Vilcek Prize. We found that 14-3-3 proteins interact with Ataxin-1 in a S776-dependent manner and that 14-3-3 augments levels of Ataxin-1 when phosphorylated at S776 by Akt kinase. Alumni Today; Research Areas. That a single gene controls the genesis and/or differentiation of multiple components of the proprioceptive pathway was a surprise. Post Doc in Dr. Huda Zoghbi's lab : Carlos Orozco. doi: 10.7554/eLife.19809. Email. Media Component. Our efforts have focused on addressing how increasing the number of glutamines in Ataxin 1 causes neuronal degeneration. 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 . Huda Y. Zoghbi (Howard Hughes Medical Institute, Baylor College of Medicine) epigenetic and transcription regulation in neural development and diseases. Dr. Zoghbi and her collaborators have unraveled the genetic underpinnings of a number of devastating neurological disorders, including Rett syndrome and spinocerebellar ataxia type 1 (SCA1). Dr. Huda Y. Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. Have an edit or suggestion for this page. Math1 is also essential for secretory cells in the gut (Paneth, goblet, and enteroendocrine cells), and the enteroendocrine cells secrete neuropeptides that modulate gut proprioception. 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