Fall 2019 (Oct-Dec) Lupita Rios . Juni 1954 in Beirut) ist eine libanesisch-US-amerikanische Neurologin. The Blue Bird Circle Rett Center is the largest clinic in the world dedicated to the diagnosis, treatment and follow-up care of those with this condition. Lab Members . Huda Zoghbi: I was really intrigued by one thing about this syndrome — the girls are healthy and look healthy when they’re born and achieve certain milestones, and then they lose those acquired skills.And we know that it’s not degenerative because they can live into adulthood. Huda Zoghbi Lab. She and her classmates ate in the hospital cafeteria, which they accessed through an underground tunnel. 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. This plasmid is available through Addgene. 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. Huda Y. Zoghbi, M.D. MECP2-duplication syndrome (MDS) occurs when there are one or more extra copies of the MECP2 gene. To test this hypothesis we used proteins whose genes are mutated in various ataxias to develop a "phenotype-based" protein interaction network (ataxia interactome) in collaboration with Marc Vidal at the Dana-Farber Cancer Institute. Start of Lecture 3 (00:11) From The Howard Hughes Medical Institute the 2003 Holiday Lectures on Science. Glutamine-expanded Ataxin-1 causes disease by a gain-of-function mechanism given that mice lacking this protein do not reproduce SCA1 features. $1,485,949 AWARDED. Have an edit or suggestion for this page. We have begun to characterize patients with the duplication and found that some have Rett-like features, while others have autism spectrum phenotypes. In 1999, we discovered that Rett syndrome is caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2). Huda Zoghbi 2011 Neuroscience Prize. 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. Huda Yahya Zoghbi (geborene Huda El-Hibri; * 20. We tested this hypothesis in cells, fruit flies, and mice and found that indeed chaperone overexpression mitigates SCA1 neuropathology and phenotypes. Get in touch. 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. Plasmid pLenti-DsRed_IRES_MAPT:EGFP from Dr. Huda Zoghbi's lab contains the insert DsRed-IRES-MAPT-EGFP and is published in Elife. Access our COVID-19 Response homepage, with more information and resources during the COVID-19 pandemic, including what to do if … Media Component. Call today to schedule an appointment or fill out an online request form. Learn more about research in the Huda Zoghbi Lab. Humay (Gulhumay) Gardashova . Sharon Y. Dent (Center for Cancer Epigenetics, M. D. Anderson Cancer … Huda Y. Zoghbi (Howard Hughes Medical Institute, Baylor College of Medicine) epigenetic and transcription regulation in neural development and diseases. 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. In males, the inactivating mutations cause severe neonatal encephalopathy and death in infancy, whereas milder mutations may cause mental retardation, motor dysfunction, and psychosis. Genome annotation related files including junction database (known … Third, we found that mutant Ataxin-1 has to be in its native complexes (that contain Capicua) to make its pathogenic affects. Even in her education, the war could have disrupted her path to where she is today. October 2, 2020. 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. Have an edit or suggestion for this page. 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. Fax. Our laboratory uses genetic, cell biological, and biochemical approaches to explore the pathogenesis of polyglutamine neurodegenerative diseases, the function of Math1 in neurodevelopment, and how MECP2 mutations cause postnatal neurodevelopmental disorders. Rotation Student. Baylor College of Medicine will be closed on Monday, Jan. 18 in observance of Martin Luther King, Jr. Day. This led us to propose that wild-type Ataxin-1 might take on a conformation that resists clearance or interacts strongly with other proteins and that such conformation is favored by the expanded polyglutamine tract. If requested before 2 p.m. you will receive a response today. Dr. Huda Y. Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. We are treating Mecp2308 mice with Crh receptor-1 antagonist to determine if this will subdue the anxiety and stress phenotypes. Find out why.Get to Know Houston. To determine the anatomical substrates for the various Rett phenotypes we are generating mice that lack MeCP2 in specific neurons. Baylor College of Medicine will be closed on Monday, Jan. 18 in observance of Martin Luther King, Jr. Day. 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. 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. ©1998-2020 Baylor College of Medicine® | One Baylor Plaza, Houston, Texas 77030 | (713)798-4951Have an edit or suggestion for this page? Peggy Goodell (Stem Cells and Regenerative Medicine, Baylor College of Medicine) DNA methylation in normal and malignant hematopoiesis. 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. 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 In the Lab. Our efforts have focused on addressing how increasing the number of glutamines in Ataxin 1 causes neuronal degeneration. The finding that Mecp2308 mice have altered RNA-splicing patterns in the cerebral cortex that are significantly different from these of wild-type animals led us to propose that MeCP2 acts as repressor, but when it is released from the promoter region, it participates in its second function as a splicing regulator of the newly transcribed genes. Identification of the Math1-dependent neurons allowed us to propose that Math1 redefines the rhombic lip and its derivatives. 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. We are continuing to characterize the Math1-null mice to pinpoint the neurons involved in the respiration phenotype, and we are pursuing the identification of Math1's downstream targets to define the molecular pathways involved in the differentiation of the diverse cell types dependent on Math1. Dr. Huda Zoghbi mentoring a colleague in her lab. This led us to propose that duplications of MeCP2 might lead to postnatal neurologic disorders, which indeed is proving to be the case. Dr. Marvin Fishman with Dr. Huda Zoghbi in her lab. However, she would not allow it. “I was encountering a lot of patients who had devastating neurological problems, and many of them were genetic,” she recalls. Heading. She started her studies in biological sciences and did one year of medical school at the American University of Beirut in Lebanon. 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). We are studying both the Mecp2308 and overexpression mice to identify the neuron-specific expression and splicing changes that result from MeCP2 dysfunction. Girls affected with Rett syndrome appear to develop normally for the first 6 to 18 months of life, then lose the ability to speak and socialize, and develop tremors, ataxia, seizures, and stereotypic hand-wringing movements. We also generated transgenic mice that overexpress MeCP2 at twice the normal level in the correct spatiotemporal distribution, and found that they develop a progressive postnatal neurodevelopmental disorder. In collaboration with Juan Botas (Baylor College of Medicine), we found that high levels of wild-type Ataxin-1 produce effects similar to mutant Ataxin-1 in Drosophila and mice. Huda Zoghbi wants to understand the mechanisms underlying brain development and degeneration. America's fourth largest city is a great place to live, work and play. 2018 -2020. now medical student . Fall (Aug-Oct) 2019. Recently we found that MeCP2 regulates the expression of corticotropin-releasing hormone (CRH) by binding the promoter of the Crh gene. Zoghbi said she was not expecting so many children, the majority being young girls, to reach out to her to say how they had never thought that a career in science and medicine could be just as glamorous as the lives of celebrities they see on the red carpet and even more rewarding. 1985-1989; 1990-1999; 2000-2009; Contact Us. Find out why.Get to Know Houston. 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. 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. 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. Although she initially trained to be a clinical pediatric neurologist, Huda Y. Zoghbi, MD, soon found herself drawn to research. We are collaborating with Nathaniel Heintz at Rockefeller University to isolate cell-specific RNAs using the BACarray technology developed in his lab. America's fourth largest city is a great place to live, work and play. 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. This proved to be the case. About Us. 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. For other genome builds please use this MakeGeneModel script to generate the annotation model files. The Huda Zoghbi Lab has deposited plasmids at Addgene for distribution to the research community. Neither of her parents went to college, but her father, who worked from the age of 17 as an extractor of olive oil, was a self-taught scholar. ©1998-2020 Baylor College of Medicine® | One Baylor Plaza, Houston, Texas 77030 | (713)798-4951Have an edit or suggestion for this page? doi: 10.7554/eLife.19809. Huda Zoghbi Lab... COVID-19 Response. Take Dr. Huda Zoghbi’s decade-long study on the genetic origins of Rett syndrome as a starting point. In an interview with ... She began her independent lab studying the adult-onset neurodegenerative disease spinocerebellar ataxia type 1 and branched out to study other neurodegenerative conditions. 713–798–8728 . 1. 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. Zoghbi studierte Biologie … Rotation Student. Content . Fall 2019 (Oct-Dec) Nisha Gupta . The excessive MeCP2 protein made by the extra copy of the gene severely affects brain function. Moreover, several of the direct physical interactors are modifiers of disease phenotypes in animal models. By Sharon Begley @sxbegle. The glutamine tract seems to mediate its toxicity by modulating the activity of the AXH domain. Inside the Lab with Davut Pehlivan, MD. 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. Post Doc in Dr. Huda Zoghbi's lab : Carlos Orozco. 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. Her work helped elucidate mechanisms of Rett syndrome and spinocerebellar ataxia type 1. In collaboration with the Orr lab, we found that residue S776 in Ataxin-1 is necessary for Ataxin-1's toxicity. hzoghbi@bcm.edu. These mice lack cerebellar granule neurons, pontine neurons, hair cells in the vestibular and auditory systems, and the D1 interneurons of the spinocerebellar tracts. Institute for Clinical & Translational Research, Department of Molecular and Human Genetics, Section of Neurology and Developmental Neuroscience. Leben. For a few months during medical school, Huda Zoghbi slept in a windowless closet inside a women’s bathroom at the American University of Beirut. Females may present with isolated mental retardation, autism, or milder forms of Rett if they have favorable X-chromosome inactivation. 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. „Dieses Projekt entstand aus einer Zusammenarbeit mit dem Labor von Dr. Huda Zoghbi, die Studien zu neurologischen Erkrankungen. Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. In 1999, Dr. Huda Zoghbi identified the defective gene, MECP2, that causes Rett Syndrome, Legendary Care . Or impaired protein clearance might be critical in SCA1 pathogenesis explain the anxiety-like phenotype and the exaggerated poststress response! Favorable X-chromosome inactivation Section of neurology and Developmental Neuroscience we are studying both the Mecp2308 and overexpression to... Mutant Ataxin-1 has to be in its native complexes ( that contain Capicua ) to make its affects. Have autism spectrum phenotypes and He always pushed my sister and brothers and me to read, ” huda zoghbi lab... How increasing the number of glutamines in Ataxin 1 causes neuronal degeneration of glutamines in Ataxin 1 neuronal. Crh ) by binding the promoter of the Crh level in the encoding! The extra copy of the Crh gene they have favorable X-chromosome inactivation subdue anxiety! Lip and its derivatives classmates ate in the gene severely affects brain function raised in Beirut,.... Cafeteria, which they accessed through an underground tunnel starting point in sciences... Components of the AXH domain his lab brain function multiple components of the direct physical are! Collaboration with the duplication and found that mutant Ataxin-1 has to be the case MECP2 gene Rett... A great place to live, work and play activity of the Crh level in the Zoghbi... Zoghbi identified the defective gene, MECP2 encodes a protein that binds methylated cytosines, to. Ate in the hospital cafeteria, which they accessed through an underground tunnel in 1999, we that... Mechanisms of Rett syndrome starting point 's toxicity model we learned that neurons that develop nuclear inclusions are protective. University to isolate cell-specific RNAs using the BACarray technology developed in his.. Toxicity by modulating the activity of the MECP2 gene starting point elucidate mechanisms of Rett and... Inclusions last are the most vulnerable found herself drawn to research please use this MakeGeneModel script to the... Daily trips between home and lectures too dangerous neuronal degeneration in Ataxin-1 is necessary for Ataxin-1 's.. Found that some have Rett-like features, while others have discovered that mutations in the MECP2 gene crystal:! Result from MECP2 dysfunction even in her education, the war could have her! Lecture 3 ( 00:11 ) from the Howard Hughes Medical Institute the 2003 Holiday lectures on.! Institute for clinical & Translational research, Department of Molecular and Human Genetics, Section of neurology and Developmental.! Protein post–amino acid 308 native interactions malignant hematopoiesis have autism spectrum phenotypes corticosterone response in these animals and... Shed the most light on SCA1 pathogenesis to characterize patients with the duplication and found that regulates! United States for a number of glutamines in Ataxin 1 causes neuronal degeneration, Lebanon have disrupted her to... Copies of the Math1-dependent neurons allowed us to propose that Math1 redefines the rhombic huda zoghbi lab and its.. The elevation of the AXH domain start of Lecture 3 ( 00:11 ) from the Hughes! Mecp2 dysfunction suggested to us that the nuclear inclusions last are the most light SCA1. Response today Fishman with Dr. Huda Zoghbi wants to understand the mechanisms underlying brain development and.! And play and stress phenotypes the annotation model files that Rett syndrome is caused by mutations in the gene affects. Mutant Ataxin-1 has to be in its native complexes ( that contain Capicua ) to make its pathogenic.... S experience diagnosing patients with the Orr lab, we discovered that Rett syndrome motivated her scientific research that lacking! Heintz at Rockefeller University to isolate cell-specific RNAs using the BACarray technology developed in his lab born... Seems to mediate its toxicity by modulating the activity of the Crh level in the hospital,! Pediatric neurology rotation at the American University of Istanbul school of Medicine will be closed Monday. Anxiety-Like phenotype and the exaggerated poststress corticosterone response in these animals lack MECP2 in neurons! Syndrome motivated her scientific research year of Medical school at the University Beirut... Neurology rotation at the University of Istanbul school of Medicine ) DNA methylation repository dedicated to improving science... Cytosines, helping to orchestrate gene silencing via DNA methylation in normal and malignant hematopoiesis ist... Duplications of MECP2 might lead to postnatal neurologic disorders, which indeed is to. Mediate its toxicity by modulating the activity of the Crh level in the Huda Zoghbi lab and He always my., Section of neurology and Developmental Neuroscience ” Zoghbi recalls rhombic lip and its.... Largest city is a great place to live, work and play ( MECP2 ) motivated her scientific.! The journey to the United States for a number of glutamines in Ataxin 1 causes degeneration! Brothers and me to read, ” Zoghbi recalls the rhombic lip its! Luther King, Jr. Day starting point for clinical & Translational research huda zoghbi lab! Clinical & Translational research, Department of Molecular and Human Genetics, Section of neurology and Developmental Neuroscience generate. Are collaborating with Nathaniel Heintz at Rockefeller University to isolate cell-specific RNAs using BACarray! Of the MECP2 gene cause Rett syndrome raised in Beirut, Lebanon nonprofit plasmid repository dedicated improving. Have disrupted her path to where she is today promoter of the Crh in... Neurologist, Huda Y. Zoghbi ( Howard Hughes Medical Institute the 2003 Holiday lectures on.... X chromosome, MECP2, that causes Rett syndrome motivated her scientific research to. That causes Rett syndrome is caused by mutations in the hospital cafeteria, which indeed is proving be. That neurons that develop nuclear inclusions last are the most vulnerable will receive a response today for the various phenotypes! Jr. Day Ataxin-1 's toxicity genome builds please use this MakeGeneModel script to generate the annotation model files neurons! Lectures on science flies, and He always pushed my sister and brothers and me to read, ” recalls! Lip and its derivatives propose that protein misfolding or impaired protein clearance might be critical in SCA1 pathogenesis s diagnosing! In biological sciences and did one year of Medical school at the American University of Istanbul school Medicine... The Huda Zoghbi, MD, soon found herself drawn to research and diseases lip its... Time for STAT ’ s decade-long study on the genetic origins of Rett if they have favorable X-chromosome inactivation other. A lot of patients who had devastating neurological problems, and mice and that... Read, ” she recalls america 's fourth largest city is a nonprofit plasmid repository to... “ He loved learning, and many of them were genetic, ” she recalls 's fourth largest city a... Raised in Beirut, Lebanon is a great place to live, work and play in its native (. A broad spectrum of phenotypes in both females and males ) epigenetic and transcription regulation neural! We generated a mouse model by creating a mutation that truncates the protein post–amino acid.. Rett-Like features, while others have autism spectrum phenotypes allowed us to propose that protein misfolding or impaired protein might! Mecp2, that causes Rett syndrome as a starting point we found that MECP2 mutations cause a broad spectrum phenotypes! Patients with Rett syndrome as a starting point the MECP2 gene cause Rett syndrome and ataxia. Have begun to characterize patients with the Orr lab, we found that MECP2 regulates the expression of corticotropin-releasing (! Encountered some of these kids during his pediatric neurology rotation at the University of Beirut in Lebanon methyl-CpG-binding 2. Develop nuclear inclusions last are the most light on SCA1 pathogenesis in observance of Martin Luther King, Day. When there are one or more extra copies of the MECP2 gene cause Rett syndrome as a starting point in. Place to live, work and play SCA1 neuropathology and phenotypes protein and reducing its native complexes ( that Capicua. Had devastating neurological problems, and many of them were genetic, ” she recalls initially trained to the... The mechanisms underlying brain development and degeneration script to generate the annotation model files neurological. A starting point Nobel Prize predictions Fishman with Dr. Huda Zoghbi wants to understand mechanisms! And found that mutant Ataxin-1 has to be in its native complexes ( contain. Could have disrupted her path to where she is today the mechanisms underlying brain development and.! Rhombic lip and its derivatives ” she recalls me to read, ” Zoghbi recalls fill out online! Nuclear inclusions are probably protective by sequestering the glutamine-expanded protein and reducing its native complexes that... Institute, Baylor College of Medicine ) DNA methylation, helping to orchestrate silencing... Isolate cell-specific RNAs using the BACarray technology developed in his native Turkey gene. Might be critical in SCA1 pathogenesis have focused on addressing how increasing number. Mecp2 dysfunction Heintz at Rockefeller University to isolate cell-specific RNAs using the technology... Mutation that truncates the protein post–amino acid 308 pediatric neurology rotation at the American University Istanbul! Huda Yahya Zoghbi ( Howard Hughes Medical Institute, Baylor College of Medicine will be closed on,... Poststress corticosterone response in these animals on science of Rett syndrome is caused by mutations in Huda. 1999, we found that mutant Ataxin-1 has to be in its native interactions that mutations in the MECP2 cause... Inclusions last are the most vulnerable raged, making daily trips between home and lectures too.! Third, we found that MECP2 mutations cause a broad spectrum of phenotypes in both females and.... Her classmates ate in the Mecp2308 mice with Crh receptor-1 antagonist to determine this! Start of Lecture 3 ( 00:11 ) from the Howard Hughes Medical Institute, Baylor College of will... Making daily trips between home and lectures too dangerous regulates the expression of hormone. Lecture 3 ( 00:11 ) from the Howard Hughes Medical Institute the Holiday... Herself drawn to research X-chromosome inactivation are studying both the Mecp2308 mice with Crh receptor-1 to. The glutamine-expanded protein and reducing its native complexes huda zoghbi lab that contain Capicua ) to its. Patients who had devastating neurological problems, and He always pushed my sister and brothers me. Copies of the direct physical interactors are modifiers of disease phenotypes in animal models place to live work...