When neuroscientist Huda Zoghbi first came face-to-face with Rett syndrome, she was well on her way to becoming a pediatric neurologist. Some of these cases, less than 2 in 100, are familial. [6], The Lebanese Civil War began in 1976 during her first year of medical school. She is a member of the National Academy of Medicine, the National Academy of Sciences, … Systems that experience impairment often include speech, motor skills, breathing, cardiac function, chewing, swallowing and digestion. 2015 - Vanderbilt Prize in Biomedical Science, 2015 - American Task Force for Lebanon Award. Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. While Rett syndrome, a postnatal neurological disorder that affects about one in 10,000 girls, is rare, research on it and how it affects the brain has led to a number of important findings about more common conditions like autism, schizophrenia and bipolar disorder, said Dr. Huda Zoghbi, who was recently awarded the 2014 Mortimer D. Sackler M.D. Long time Rett researcher, Dr. Huda Zoghbi, is one of seven scientists on the Scientific Advisory Board advising the Zuckerbergs. [8] They determined that the disease was caused by an expansion of the glutamine-encoding CAG trinucleotide repeat in this gene, and that the younger the age of onset, the longer the CAG repeat. The main reason is that very few individuals and even fewer families are available for investigation. We asked Zoghbi, professor of molecular and human genetics at Baylor College of Medicine in Houston, Texas, about the power of this approach to study Rett syndrome. Endowed Chair, the director of the Texas Children's Hospital Jan and Dan Duncan Neurological Research Institute, a member of the Dan L. Duncan Comprehensive Cancer Center at Baylor, and an investigator at the Howard Hughes Medical Institute. Rett : There Is Hope - Case Studies, Family Portraits, and the Search for a Cure ( Visual ) 1 edition published ... Huda Zoghbi libanesisch-US-amerikanische Medizinerin. Chao HT, Chen H, Samaco RC, Chahrour M, Xue M, Yoo J, Neul JL, Gong S, Heintz N, Ekker M, Rubenstein J, Noebels JL, Rosenmund C, Zoghbi HY "GABAergic dysfunction mediates autism-like stereotypies and Rett syndrome phenotypes.." Nature. [21] In 2009, she found mice deficient of the Mecp2 gene (the mouse homolog of human MECP2) had lower levels of norepinephrine, dopamine and serotonin,[22] consistent with her clinical observations of patients of Rett syndrome in 1985. FRANÇAIS, Science and Business Development Consultant, Sr. Director of Research & Clinical Strategy, Founder & Executive Director, Reverse Rett UK, Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital. Dr. Zoghbi serves as director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital which officially opened in December of 2010. EIN: 26-0687439 2014 - Honorary Doctor of Medical Sciences. https://www.rettsyndrome.org/event/retted-2019-research-update Dr. Zoghbi studied at the American University of Beirut, Meharry Medical College and Baylor College of Medicine. [13] Further work by Zoghbi, Orr and their teams demonstrated that the misfolding, aggregation, and proteasomal degradation of the protein product of this gene, Ataxin 1, played a role in the disorder. 2010 468 (7321): 263-9. In 1999, after a 16-year search, the Zoghbi lab identified mutations in the MECP2 gene as the cause of Rett Syndrome. Dr. Huda Y. Zoghbi is an internationally renowned physician-scientist and a central figure in the Rett Syndrome research field. Dr. Zoghbi began her career as a pediatric neurologist, but a chance encounter with a young child with Rett Syndrome drew her from clinical practice into the world of genetics research. Huda Zoghbi, a pediatric neurologist studying genetic disorders associated with developmental delay and intellectual disability, made an unexpected connection between one of Bird’s methyl-cytosine-binding proteins, MeCP2, and a challenging neurological disorder called Rett syndrome. The gene that causes Rett syndrome, a rare disorder on the autism spectrum that affects only females, may also play a key role in aggressive behavior and overeating in mice, according to a study published today in Neuron 1.. Dr. Zoghbi was awarded the Pearl Meister Greengard Prize in 2013, one of the most prestigious award given to a woman scientist. [7], Zoghbi's team keeps studying MECP2, and discovered in 2004 that overexpressing the protein in mouse led to an autism-like neurological disorder. Huda Zoghbi neuroscientifique et médecin américaine. These girls experience developmental regression, repetitive movement, loss of speech, motor difficulties, breathing abnormalities, and seizures. Huda Zoghbi is a pediatric neurologist and HHMI investigator at the Baylor College of Medicine and director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital (Figure 1).She uses genetic and biochemical approaches to explore spinocerebellar ataxia and Rett … DEUTSCH In 2011 she won the prestigious Gruber Neuroscience Prize  and the Scolnick Prize. Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. During her rotation at pediatric neurology, Marvin Fishman, the head of the division, convinced her that the brain was more interesting than the heart. Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. These girls experience developmental regression, repetitive movement, loss of speech, motor difficulties, breathing abnormalities, and seizures. [8] Despite her continued desire to return to Lebanon the next summer, on the advice of professors at AUB, she stayed at Meharry and earned an MD degree in 1979, after which she joined the Texas Children's Hospital at the Baylor College of Medicine as a pediatric resident.[6]. ESPAÑOL No spam, just monthly updates. 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). Those affected often have slower growth, difficulty walking, and a smaller head size. She went on to discover the gene Math1 and the molecular pathology underlying spinocerebellar ataxia 1. 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. Dr. Huda Zoghbi. Symptoms include impairments in language and coordination and repetitive movements. She is also a member of the Lasker Award jury. [3] William is the chief of the Department of Cardiology at Houston Methodist Hospital. She is on the editorial boards of the journals Science, Neuron, and PloS. But wait…the news gets better. Brain Prize Lecture Rett syndrome from the clinic to genomes, epigenomes and neural circuits. [6] Her mother convinced her to study biology instead, on the grounds that 'a woman growing up in the Middle East should pick a career ensuring independence and security, while she can always write on the side'. RETT Syndrome. In 2017, she was awarded the Canada Gairdner International Award and the Breakthrough Prize in Life Sciences. “I was encountering a lot of patients who had devastating neurological problems, and many of them were genetic,” she recalls. Huda Zoghbi stands out as a leader in this field of research. Although she and her classmates decided to stay at the university, after her brother was injured by shrapnel, their parents sent them to live with their sister in Austin, Texas, with plans to return the following summer. In an interview with Neuron, she shares a trinucleotide repeat expansion discovery story, offers advice for young investigators, and discusses the tools needed to drive discovery forward. She focuses on genetic and cell biology approaches to explore neurodegenerative and neurodevelopmental diseases. She focuses on genetic and cell biology approaches to explore neurodegenerative and neurodevelopmental diseases. However, in October, it was confirmed that she was still unable to return to Lebanon due to the war, and US medical schools had begun their fall term 2 months earlier. 379 views | +0 today. She thus started a 3-year term as a postdoctoral researcher in pediatric neurology after she finished her residency in 1982. Genetic Information. As Baylor's Hugo J. Bellen described the role of the atonal gene in balance in fruit flies, Zoghbi chose to study its mammalian homolog. She loved reading works by William Shakespeare, Jane Austen and William Wordsworth in high school and intended to pursue literature at university. Huda Y. Zoghbi Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine tract in ataxin-1. Huda Zoghbi wants to understand the mechanisms underlying brain development and degeneration. Symptoms include impairments in language and coordination and repetitive movements. Although she initially trained to be a clinical pediatric neurologist, Huda Y. Zoghbi, MD, soon found herself drawn to research. [14], After solving the etiology of spinocerebellar ataxia type 1, Zoghbi began studying animal genes related to balance. Huda Zoghbi libanesisk neurolog. MECP2 Duplication Syndrome is Reversible!Read More, Deep Brain Stimulation – A Potential Therapeutic for Rett Syndrome?Read More, Rett Syndrome Research Trust Huda Zoghbi Receives Canada Gairdner International Award for Research on Rett Syndrome Summary The Gairdner Foundation announced today that Howard Hughes Medical Institute (HHMI) investigator Huda Y. Zoghbi of Baylor College of Medicine is a recipient of the prestigious 2017 Canada Gairdner International Award in recognition of her contributions to medical science. They both had their residencies in the Baylor College of Medicine after graduation. Long time Rett researcher, Dr. Huda Zoghbi, is one of seven scientists on the Scientific Advisory Board advising the Zuckerbergs. In an interview with Neuron, she shares a trinucleotide repeat expansion discovery story, offers advice for young investigators, and discusses the tools needed to drive discovery forward. Although neither of her parents went to college, they were both incredibly passionate about learning, and instilled a lifelong love of reading and literature in their children. In 1999, Dr. Zoghbi and collaborators including research fellow Ruthie Amir made a major breakthrough for Rett syndrome. [20] The MECP2 protein binds methylated cytosine (5-methylcytosine) in CpG sites, and is indispensable for almost all brain cells. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. Dr. Huda Y. Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. Those affected often have slower growth, difficulty walking, and a smaller head size. [8] Beaudet advised against Rett syndrome as her research project since its mode of inheritance was still not obvious, and recommended a more approachable problem - spinocerebellar ataxia type 1, a dominantly inherited neurological disorder. Huda Zoghbi is an internationally renowned physician-scientist and a central figure in the Rett Syndrome research field. Geneticist Huda Zoghbi first identified mutations in MeCP2 as Rett’s cause in a 1999 study 1. 2010 468 (7321): 263-9. To date over 1,000 cases of Rett syndrome have been described in females exclusively. Scooped by Tommy Lawson onto RETT Syndrome: Scoop.it! [2] This led her to join Arthur Beaudet's group in 1985, after finishing her term as a postdoctoral researcher, for training in genetics and molecular biology. In an interview with Neuron, she shares a trinucleotide repeat expansion discovery story, offers advice for young investigators, and discusses the tools needed to drive discovery forward. Pubmed PMID: 21068835 [42], National Institute of Neurological Disorders and Stroke, Columbia University College of Physicians and Surgeons, Robert J. and Claire Pasarow Foundation Award in Neuropsychiatry Research, American Association for the Advancement of Science, "Silicon Valley's 'Nobels': Mega-prizes awarded for work in brains, the origins of life and gravitational waves", "Genetic Neurologist: A Profile of Huda Zoghbi", Proceedings of the National Academy of Sciences of the United States of America, "Women in science: Huda Zoghbi discovered the genetic basis of Rett syndrome", "Research collaboration focuses on CDKL5 Deficiency Disorder", "Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis", "Deletion of Atoh1 Disrupts Sonic Hedgehog Signaling in the Developing Cerebellum and Prevents Medulloblastoma", "Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis", "Mild overexpression of MeCP2 causes a progressive neurological disorder in mice", "Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities", "MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome", "Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome", "Ataxin-1: One gene, two different neurodegenerative diseases", "Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription", https://www.lundbeckfonden.com/en/thebrainprize/winners/, "Molecular Medicine awards Ross Prize to Baylor College of Medicine's Huda Zoghbi", "Dr. Huda Zoghbi receives Lebanon's highest honor", "Breakthrough Prize Life Sciences Laureates 2017", "Yale awards 12 honorary degrees at 2014 graduation", "McGovern Institute to honor neurogenetics researcher Huda Zoghbi", "Texas Children's Hospital Neuroscientist Dr. Huda Zoghbi Receives 2011 Legacy Award from The Brookwood Community", "Baylor College scientist wins Perl-UNC Neuroscience Prize", University of North Carolina at Chapel Hill, "Arab Students' Organization hosts awards", "William A. Zoghbi, MD, FASE, FAHA, MACC", The Event Horizon Telescope Collaboration, https://en.wikipedia.org/w/index.php?title=Huda_Zoghbi&oldid=994954959, Members of the United States National Academy of Sciences, Members of the National Academy of Medicine, Articles with dead external links from March 2020, Wikipedia articles with ORCID identifiers, Wikipedia articles with WORLDCATID identifiers, Creative Commons Attribution-ShareAlike License. [8] In the paper, she and her team demonstrated that Rett syndrome was an X-linked dominant disorder, meaning that when 1 of the 2 copies of the MECP2 gene is abnormal, Rett syndrome will result. First, all the patients were girls, but none of the parents were affected, indicating the involvement of a dominant X-chromosome-linked mutation. Second, Rett syndrome was a developmental disorder, and the … Rett syndrome is caused by a mutation in the MECP2 gene. Huda Zoghbi & Sir Adrian Bird Share World’s Largest ($1.5 Million) & Most Prestigious Prize for Pioneering Brain Research for Their Seminal Work on Rett Syndrome. [6] In addition to her research on spinocerebellar ataxia type 1 and Rett syndrome, Zoghbi is participating in a joint research collaboration into CDKL5 Deficiency Disorder, funded by the Loulou Foundation, Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital[12], Following the establishment of her own lab, Zoghbi continued studying spinocerebellar ataxia type 1 (SCA1), in collaboration with Harry Orr from the University of Minnesota. The paper allowed Zoghbi to diagnose a five-year-old she treated at Texas Children's Hospital, and a week later she saw another patient with the same set of symptoms. Geneticist Huda Zoghbi first identified mutations in MeCP2 as Rett’s cause in a 1999 study 1. Henry sees a physiologist to help strengthen him, and is also being helped by Dr. Huda Zoghbi, who discovered the genetic cause of Rett Syndrome The youngster also has a … Huda Zoghbi 2011 Neuroscience Prize. The inheritance through maternal lines in the familial cases suggests that Rett syndrome is an X-linked disorder lethal in males. Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute, was a featured guest on the Charlie Rose Show.She discussed the developing brain for episode five of the Charlie Rose Brain Series with Dr. Patricia Kuhl of University of Washington, Dr. Elizabeth Spelke of Harvard University and Dr. Stephen Warren of Emory University. Dr Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. Trumbull, CT 06611 USA, Start a campaign today and start #MakingRettHistory, © 2021 Rett Syndrome Research Trust In 1999, IRSA president Kathy Hunter approached her and several other laboratories pursuing the Rett gene with funding for a full-time scientist to work on the search for the next year. Zoghbi initially intended to specialise in pediatric cardiology, out of an interest in the heart. Rett Syndrome research 1 . She is a Howard Hughes Medical Institute investigator and a member of the National Academy of Science and the Institute of Medicine. [17] Her lab has also shown that aberrant activation of Math1 could lead to medulloblastoma, a common childhood brain tumor, and that mice which did not express Math1, did not develop the tumor. When she investigated medical records, she found more cases of Rett syndrome that had been misdiagnosed. [2] An article she published in 1985[10] attracted many Rett syndrome patients to Texas Children's Hospital, giving her access to a large number of cases. Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. A Forward Genetic Screen to Identify Druggable Modulators of MECP2 Levels Huda Zoghbi MD | Baylor College of Medicine If you have a son or daughter with MECP2 Duplication please add that person to our UK Registry for people with Rett Syndrome and related disorders. Prize alongside Dr Huda Zoghbi. This discovery explained many of Rett’s puzzling symptoms, for MECP2 encodes a protein (methyl-CpG-binding protein 2) whose activity performs a crucial role in the function of mature brain cells. To date over 1,000 cases of Rett syndrome have been described in females exclusively. Her lab has been at the forefront of work eliminating the gene from distinct brain regions. 2009 - Vilcek Prize for Biomedical Research, 2007 - Massachusetts Institute of Technology Arab Students' Organization, 2004 - Marta Philipson Award in Pediatrics, Philipson Foundation for Research, This page was last edited on 18 December 2020, at 12:06. [24], After linking the gene Ataxin-1 to SCA1, Zoghbi's lab was approached by Dr. Jaehong Suh of the Massachusetts General Hospital's MassGeneral Institute for Neurodegenerative Disease to investigate the connection between ataxin-1 gene and Alzheimer’s disease. The gene that causes Rett syndrome, a rare disorder on the autism spectrum that affects only females, may also play a key role in aggressive behavior and overeating in mice, according to a study published today in Neuron1. Literature, then research. Huda Zoghbi, MD. From 1982 to 1985, Zoghbi was a postdoctoral researcher in pediatric neurology at the Baylor College of Medicine. In an interview with Neuron, she shares a trinucleotide repeat expansion discovery story, offers advice for young investigators, and discusses the tools needed to drive discovery forward. Some of these cases, less than 2 in 100, are familial. [25] The subsequent study found that loss of ataxin-1 elevates BACE1 expression and Aβ pathology in mouse models, rendering it a potential contributor to risk and pathogenesis of Alzheimer's disease. Vanderbilt did not accept transfer students, but recommended Meharry Medical College instead; Meharry accepted her on the spot. Impelled by the plight of the patients and intrigued by the bizarre mix of symptoms that mark the syndrome, Zoghbi boldly decided to change course, setting aside her clinical career to seek training in molecular genetics. Baylor College of Medicine. Mysteriously, the patient had been healthy until the age of 18 months, when she became withdrawn, avoided eye contact and eventually stopped talking. Zoghbi, Huda Y. Zoghbi, Huda Y. Zoghbi discovered the genetic mutations that cause X-linked Rett Syndrome and genetic mutations responsible for several dominantly inherited spinocerebellar ataxias. Huda Y. Zoghbi (Arabic: هدى الزغبي) (born 1955) is a Lebanese-born physician and medical researcher. In 1983, during her pediatric residency at Texas Children’s Hospital, Huda Zoghbi, MD, saw her first patient with Rett syndrome, a nonverbal 5-year-old girl who couldn’t stop wringing her hands. A member of her lab successfully cloned the mouse homolog, Math1, in 1996. Since then, Huda Zoghbi has uncovered the molecular mechanisms of normal neurodevelopment and neurodegeneration by probing the complexities of rare neurological diseases, including Rett syndrome and spinocerebellar ataxia. In 1999, Dr. Huda Zoghbi and colleagues discovered that mutations in the gene encoding methyl CpG binding protein 2 (MECP2) cause Rett syndrome. 中文 Зогби, Худа. In 1988, Zoghbi left Beaudet's group and founded her own lab at Baylor. In 1999, Dr. Huda Zoghbi and colleagues discovered that mutations in the gene encoding methyl CpG binding protein 2 MECP2) cause Rett syndrome. They had discovered that mutations in MECP2, the gene encoding methyl-CpG-binding protein 2, causes Rett syndrome. Resources. Huda Zoghbi, a pediatric neurologist studying genetic disorders associated with developmental delay and intellectual disability, made an unexpected connection between one of Bird’s methyl-cytosine-binding proteins, MeCP2, and a challenging neurological disorder called Rett syndrome. Facebook founder, Mark Zuckerberg and his wife Priscilla, will be investing $3 billion over the next decade (and more billions after that) to help cure, prevent, or manage all disease. Huda Zoghbi, Houston, United States of America. Thursday’s report challenges the long-held belief that the brain damage from Rett syndrome is permanent, ... we have a chance of recovery,” said Dr. Huda Zoghbi of the Baylor College of Medicine. Her family friends in America suggested she apply to Vanderbilt University. Their discoveries have provided new ways of thinking about more common neurological disorders, including autism, intellectual disability, and Parkinson’s disease, and could lead to better treatments. About the Laureate “I considered him my American father,” Huda says. Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age in females. Dr. Huda Zoghbi has received many honors, including the Sidney Carter Award from the AAN, and the Derek Denny-Brown Neurological Scholar Award from the American Neurological Association. She focuses on genetic and cell biology approaches to explore neurodegenerative and neurodevelopmental diseases. Mutations in MECP2 are now being seen in some cases of childhood schizophrenia, classic autism and learning disabilities. 2014 - Edward M. Scolnick Prize in Neuroscience, 2011 - Vita and Lee Lyman Dewey Tuttle Brookwood Legacy Award for Excellence and Partnership in Medicine, Brookwood Community. On 30 September, Huda Zoghbi presented data from mouse studies that have helped identify the brain cells involved in Rett syndrome, an autism-like neurodevelopmental disorder. Her work helped elucidate mechanisms of Rett syndrome and spinocerebellar ataxia type 1. RSRT Biorepository (fibroblasts and iPSCs) - To access samples please email Jana von Hehn; Coriell Research Institute; Harvard Brain Bank; Autism Brain Net; University of Maryland Brain & Tissue Bank; Rodent Models. Undeterred, Zoghbi decided to go on a full-blown gene hunt, and in 1999, she and her collaborators announced that they had identified MECP2 as the gene responsible for Rett syndrome. Zoghbi has made seminal contributions not only to our understanding of the genetics and pathology of spinocerebellar ataxia type 1 and Rett syndrome, but also to the study of balance. “This will allow us to take risks and push the research forward to find a treatment.” “Dr. On the same day, 8 April 1993, both Zoghbi and Orr identified ATXN1 as the gene responsible for SCA1. 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. In 1992, Bird uncovered a protein called MeCP2, which is encoded by the MECP2 gene. Zoghbi, Huda. [26], Zoghbi met her husband, William Zoghbi when they were medical students in the American University of Beirut. Her lab has been at the forefront of work eliminating the gene from distinct brain regions. She also discussed how research in people can reveal the functions of MeCP2, the primary gene linked to the disorder.. You can watch a complete replay of the webinar above. Follow Tag; Emergent Literacy 1. When neuroscientist Huda Zoghbi first came face-to-face with Rett syndrome, she was well on her way to becoming a pediatric neurologist. ... Huda Zoghbi, MD. While Rett syndrome, a postnatal neurological disorder that affects about one in 10,000 girls, is rare, research on it and how it affects the brain has led to a number of important findings about more common conditions like autism, schizophrenia and bipolar disorder, said Dr. Huda Zoghbi, who was recently awarded the 2014 Mortimer D. Sackler M.D. [15] Her team went on to find that, in addition to its involvement in balance and coordination, Math1 is also crucial to hearing [16] and the formation of secretory cells in the gut. 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America suggested she apply to Vanderbilt University 1_suppl, S76-S78 Download Citation the American University Beirut... In 1976 during her first year of Medical school a protein called,...