To this day, Baylor College of Medicine is Huda’s home base, and now she is a professor of pediatrics, molecular and human genetics, and neuroscience. No spam, just monthly updates. Zoghbi was born in Beirut in 1954. She loved reading works by William Shakespeare, Jane Austen and William Wordsworth in high school and intended to pursue literature at university. [7][6] Zoghbi was admitted as a biological sciences major at the American University of Beirut (AUB) in 1973 and entered the university's medical school 2 years later. Please join us Tuesday, September 10th at 1:00 pm eastern with Huda Y. Zoghbi, M.D., Director, Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital; Baylor College of Medicine as we journey from discovery of the Rett syndrome disease-causing MECP2 gene to where that discovery and subsequent learnings have taken us to today. Brain Prize Lecture Rett syndrome from the clinic to genomes, epigenomes and neural circuits. In 1988, Zoghbi left Beaudet's group and founded her own lab at Baylor. In 2017, she was awarded the Canada Gairdner International Award and the Breakthrough Prize in Life Sciences. In 1999, Huda Zoghbi and her team first linked mutations in … [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. Long time Rett researcher, Dr. Huda Zoghbi, is one of seven scientists on the Scientific Advisory Board advising the Zuckerbergs. Geneticist Huda Zoghbi first identified mutations in MeCP2 as Rett’s cause in a 1999 study 1. 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. 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. In 1999, after a 16-year search, the Zoghbi lab identified mutations in the MECP2 gene as the cause of Rett Syndrome. Join our mailing list. Her lab has been at the forefront of work eliminating the gene from distinct brain regions. Join our mailing list to stay in the loop and learn more about advances in research and upcoming events. [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. Зогби, Худа. 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. Zoghbi initially intended to specialise in pediatric cardiology, out of an interest in the heart. 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 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. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. Symptoms include impairments in language and coordination and repetitive movements. Some of these cases, less than 2 in 100, are familial. When she investigated medical records, she found more cases of Rett syndrome that had been misdiagnosed. In 2017, she was awarded the Canada Gairdner International Award and the Breakthrough Prize in Life Sciences. 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, Huda Y. Zoghbi, Huda Y. 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). Huda Zoghbi libanesisk neurolog. Mysteriously, the patient had been healthy until the age of 18 months, when she became withdrawn, avoided eye contact and eventually stopped talking. 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. OUR POLICIES [19] In 1999, a postdoctoral researcher in Zoghbi's lab identified MECP2 as the causative gene. Huda Yahya Zoghbi (Arabic: هدى الهبري الزغبي Hudā al-Hibrī az-Zughbī; born 1954), born Huda El-Hibri,[2] is a Lebanese-born American geneticist, and a professor at the Department of Molecular and Human Genetics, Baylor College of Medicine. 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. 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. Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. [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. To date over 1,000 cases of Rett syndrome have been described in females exclusively. [26], Zoghbi met her husband, William Zoghbi when they were medical students in the American University of Beirut. Dr. Zoghbi is a charter member of the board of the International Rett Syndrome Association (IRSA), a family-based organization that has funded millions of dollars in Rett 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. “I was encountering a lot of patients who had devastating neurological problems, and many of them were genetic,” she recalls. Huda Zoghbi, Houston, United States of America. Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. [4], In 1983, Zoghbi learnt of Rett syndrome from Bengt Hagberg's account in Annals of Neurology. [7], Zoghbi's team keeps studying MECP2, and discovered in 2004 that overexpressing the protein in mouse led to an autism-like neurological disorder. Those affected often have slower growth, difficulty walking, and a smaller head size. 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. 2019 - Victor A. McKusick Leadership Award. Zoghbi, Huda. 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. 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 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. 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. First, all the patients were girls, but none of the parents were affected, indicating the involvement of a dominant X-chromosome-linked mutation. Her family friends in America suggested she apply to Vanderbilt University. She is also a member of the Lasker Award jury. They both had their residencies in the Baylor College of Medicine after graduation. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. A member of her lab successfully cloned the mouse homolog, Math1, in 1996. Recently, Zoghbi confirmed that the MECP2 protein also bound 5-methylcytosine not in CpG sites,[23] and that restoring the level of MECP2 protein in a subset of neurons was sufficient to rescue some symptoms of Rett syndrome. Genetic Information. [9] At present, Zoghbi is a professor at the Department of Molecular and Human Genetics at Baylor, with appointments as a professor at the Department of Neuroscience and the Department of Pediatrics Section of Neurology and Developmental Neuroscience, the Ralph Feigin, M.D. No spam, just monthly updates. 379 views | +0 today. Everyone emailing was asking the same question – does the new initiative bring attention and millions of dollars to Rett? 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. [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. 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. In 1977, she continued her medical school study in Meharry Medical College, and William transferred to Meharry next year. Trumbull, CT 06611 USA, Start a campaign today and start #MakingRettHistory, © 2021 Rett Syndrome Research Trust 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. To Continue Reading . “This will allow us to take risks and push the research forward to find a treatment.” “Dr. She focuses on genetic and cell biology approaches to explore neurodegenerative and neurodevelopmental diseases. These girls experience developmental regression, repetitive movement, loss of speech, motor difficulties, breathing abnormalities, and seizures. 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. EIN: 26-0687439 Follow Tag; Emergent Literacy 1. Dr. Huda Zoghbi is the Ralph D. Feigin professor at Baylor College of Medicine, ... Zoghbi has worked with Rett Syndrome patients since 1983, and it was her curiosity about the genetics of this disease that led to the discovery of MECP2 as the gene responsible for this sporadic neurological disease. To date over 1,000 cases of Rett syndrome have been described in females exclusively. Although she initially trained to be a clinical pediatric neurologist, Huda Y. Zoghbi, MD, soon found herself drawn to research. Having Dr. Zoghbi involved with such a high profile initiative may certainly help bring awareness to Rett Syndrome. Huda Zoghbi, a genetics professor at Baylor College of Medicine, and Adrian Bird, a genetics professor from the University of Edinburgh, have spent years researching this rare and devastating neurological disorder. But wait…the news gets better. Huda Zoghbi was born in Beirut, Lebanon in 1954, and raised in Beirut. Zoghbi discovered the genetic mutations that cause X-linked Rett Syndrome and genetic mutations responsible for several dominantly inherited spinocerebellar ataxias. 1954-Zoghbi, Huda Yahya 1954-Гуда Зогбі. (Boys who are stricken almost always die in infancy.) 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. 2014 - Honorary Doctor of Medical Sciences. Dr. Huda Zoghbi. This sparked her interest in Rett syndrome, at a time when there was no report of the disease in the US. 2010 468 (7321): 263-9. Baylor College of Medicine. In 1999, Dr. Huda Zoghbi and colleagues discovered that mutations in the gene encoding methyl CpG binding protein 2 (MECP2) cause Rett syndrome. Rett syndrome is a debilitating neurological disorder, affecting approximately 1 in 10,000 girls. Pubmed PMID: 21068835 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. 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. 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. Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. 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. [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. Over the years, Huda developed a fantastic relationship with Dr. Feigin. Rettbase (mutation database) InterRett; OMIM MECP2; OMIM Rett Syndrome; Patient Tissue. 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. Huda Zoghbi stands out as a leader in this field of research. [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. “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. She became an assistant professor at the Department of Pediatrics at Baylor in 1988, and was successively promoted to associate professor in 1991 and professor in 1994. 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. 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. During her rotation at pediatric neurology, Marvin Fishman, the head of the division, convinced her that the brain was more interesting than the heart. 2010 468 (7321): 263-9. Huda Y. Zoghbi (Arabic: هدى الزغبي) (born 1955) is a Lebanese-born physician and medical researcher. ... 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. DEUTSCH In 1999, Dr. Zoghbi and collaborators including research fellow Ruthie Amir made a major breakthrough for Rett syndrome. Systems that experience impairment often include speech, motor skills, breathing, cardiac function, chewing, swallowing and digestion. Huda Zoghbi, MD. Dr. Zoghbi was awarded the Pearl Meister Greengard Prize in 2013, one of the most prestigious award given to a woman scientist. Rett : There Is Hope - Case Studies, Family Portraits, and the Search for a Cure ( Visual ) 1 edition published ... Huda Zoghbi libanesisch-US-amerikanische Medizinerin. In 2011 she won the prestigious Gruber Neuroscience Prize  and the Scolnick Prize. 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. The main reason is that very few individuals and even fewer families are available for investigation. 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. 2015 - Vanderbilt Prize in Biomedical Science, 2015 - American Task Force for Lebanon Award. 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. Dr. Huda Y. Zoghbi is an internationally renowned physician-scientist and a central figure in the Rett Syndrome research field. [5] She is also a member of the board of directors of Regeneron Pharmaceuticals. [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. 中文 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. 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. To Continue Reading . [14], After solving the etiology of spinocerebellar ataxia type 1, Zoghbi began studying animal genes related to balance. It shows support to the families living with Rett syndrome and to my trainees who work tirelessly on this research,” Dr. Zoghbi said. Her lab has been at the forefront of work eliminating the gene from distinct brain regions. Scooped by Tommy Lawson onto RETT Syndrome: Scoop.it! Dr. Huda Y. Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at 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. Also in family support, we look at what council tax reductions you may be eligible for, we have our annual survey we would really appreciate you completing please and some fab updates from the communication team including the publication of the communication guidelines for individuals with Rett syndrome. Rett syndrome is caused by a mutation in the MECP2 gene. She focuses on genetic and cell biology approaches to explore neurodegenerative and neurodevelopmental diseases. On the same day, 8 April 1993, both Zoghbi and Orr identified ATXN1 as the gene responsible for SCA1. 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.. Rett syndrome is rare, afflicting roughly one in 10,000 girls. [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. Mutations in MECP2 are now being seen in some cases of childhood schizophrenia, classic autism and learning disabilities. Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. Her work helped elucidate mechanisms of Rett syndrome and spinocerebellar ataxia type 1. She focuses on genetic and cell biology approaches to explore neurodegenerative and neurodevelopmental diseases. https://www.rettsyndrome.org/event/retted-2019-research-update She is a Howard Hughes Medical Institute investigator and a member of the National Academy of Science and the Institute of Medicine. Some of these cases, less than 2 in 100, are familial. Shortly after this, Huda Zoghbi diagnosed her first Rett patient, a five-year-old girl, at Texas Children’s Hospital. Vanderbilt did not accept transfer students, but recommended Meharry Medical College instead; Meharry accepted her on the spot. In 1999, Huda Zoghbi and her colleagues discovered that genetic mutations in the gene MECP2 3,4, located on the X chromosome, cause RTT. [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'. 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 is an internationally renowned physician-scientist and a central figure in the Rett Syndrome research field. About the Laureate Huda Zoghbi wants to understand the mechanisms underlying brain development and degeneration. In 1992, she narrowed down the target to a section of the X chromosome. They married in 1980 and have 2 children. 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. 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. 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. Journal of Child Neurology 1988 3: 1_suppl, S76-S78 Download Citation. She thus started a 3-year term as a postdoctoral researcher in pediatric neurology after she finished her residency in 1982. 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. She is on the editorial boards of the journals Science, Neuron, and PloS. 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. [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. Huda Zoghbi, a physician-scientist in the field of neurogenetics and the recipient of the 2013 pearl Meister Greengard Prize, the 2013 Dickson Prize in Medicine, and the 2011 Gruber Prize in neuroscience was selected as the Featured Speaker of the Cell Press-TNQ India Distinguished Lectureship Series 2014. Rett Syndrome research 1 . Dr. Huda Y. Zoghbi is an internationally renowned physician-scientist and a central figure in the Rett Syndrome research field. Pubmed PMID: 21068835 In 1992, Bird uncovered a protein called MeCP2, which is encoded by the MECP2 gene. [18], Ever since Zoghbi was introduced to Rett syndrome early in her career, she has been working on the disorder alongside other research, despite the lack of enthusiasm from her colleagues, fellow researchers and funding agencies. MECP2 Duplication Syndrome is Reversible!Read More, Deep Brain Stimulation – A Potential Therapeutic for Rett Syndrome?Read More, Rett Syndrome Research Trust The inheritance through maternal lines in the familial cases suggests that Rett syndrome is an X-linked disorder lethal in males. From 1982 to 1985, Zoghbi was a postdoctoral researcher in pediatric neurology at the Baylor College of Medicine. [6][8] The war, however, raged on, and Zoghbi was under the impression that school terms at American medical schools began in October, as was the case with Lebanese schools. When neuroscientist Huda Zoghbi first came face-to-face with Rett syndrome, she was well on her way to becoming a pediatric neurologist. [5] Her work helped elucidate mechanisms of Rett syndrome and spinocerebellar ataxia type 1. 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