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. Rettbase (mutation database) InterRett; OMIM MECP2; OMIM Rett Syndrome; Patient Tissue. [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. Some of these cases, less than 2 in 100, are familial. She loved reading works by William Shakespeare, Jane Austen and William Wordsworth in high school and intended to pursue literature at university. Mysteriously, the patient had been healthy until the age of 18 months, when she became withdrawn, avoided eye contact and eventually stopped talking. These girls experience developmental regression, repetitive movement, loss of speech, motor difficulties, breathing abnormalities, and seizures. 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. Huda Zoghbi. 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 Y. Zoghbi is an internationally renowned physician-scientist and a central figure in the Rett Syndrome research field. Literature, then research. [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. 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 libanesisk neurolog. 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. 2010 468 (7321): 263-9. Those affected often have slower growth, difficulty walking, and a smaller head size. 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. The main reason is that very few individuals and even fewer families are available for investigation. These girls experience developmental regression, repetitive movement, loss of speech, motor difficulties, breathing abnormalities, and seizures. First, all the patients were girls, but none of the parents were affected, indicating the involvement of a dominant X-chromosome-linked mutation. 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 … [7], Zoghbi's team keeps studying MECP2, and discovered in 2004 that overexpressing the protein in mouse led to an autism-like neurological disorder. 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.. 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. [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. As a result, Zoghbi acquired significant clinical expertise in neurodevelopmental disease, and ultimately came to the hypothesis that Rett syndrome was a genetic disorder. To Continue Reading . Shortly after this, Huda Zoghbi diagnosed her first Rett patient, a five-year-old girl, at Texas Children’s Hospital. It is the first facility of its kind in the United States with a multidisciplinary research approach dedicated to understanding the unique issues of a child’s brain structure, development patterns and related diseases. Pubmed PMID: 21068835 Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. https://www.rettsyndrome.org/event/retted-2019-research-update Dr. Huda Y. Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. In the 1990s, she collaborated with Uta Francke from Stanford University to identify the gene responsible for Rett syndrome. 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. Zoghbi, Huda Y. Zoghbi, Huda Y. “I was encountering a lot of patients who had devastating neurological problems, and many of them were genetic,” she recalls. 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. [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. 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. [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. Prize alongside Dr Huda Zoghbi. Her family friends in America suggested she apply to Vanderbilt University. Huda Zoghbi wants to understand the mechanisms underlying brain development and degeneration. 2015 - Vanderbilt Prize in Biomedical Science, 2015 - American Task Force for Lebanon Award. Scooped by Tommy Lawson onto RETT Syndrome: Scoop.it! Rett syndrome is rare, afflicting roughly one in 10,000 girls. [5] Her work helped elucidate mechanisms of Rett syndrome and spinocerebellar ataxia type 1. This sparked her interest in Rett syndrome, at a time when there was no report of the disease in the US. Although she initially trained to be a clinical pediatric neurologist, Huda Y. Zoghbi, MD, soon found herself drawn to research. [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 research 1 . Zoghbi, Huda. In 1999, after a 16-year search, the Zoghbi lab identified mutations in the MECP2 gene as the cause of Rett Syndrome. [20] The MECP2 protein binds methylated cytosine (5-methylcytosine) in CpG sites, and is indispensable for almost all brain cells. The disorder results, to varying degrees, in mental and physical disability. Vanderbilt did not accept transfer students, but recommended Meharry Medical College instead; Meharry accepted her on the spot. 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. 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. Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age in females. When neuroscientist Huda Zoghbi first came face-to-face with Rett syndrome, she was well on her way to becoming a pediatric neurologist. [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]. To Continue Reading . [11], Since most patients of Rett syndrome were girls, and symptoms were very consistent across patients, Zoghbi believed genetics were involved in the disease process. 1954-Zoghbi, Huda Yahya 1954-Гуда Зогбі. Systems that experience impairment often include speech, motor skills, breathing, cardiac function, chewing, swallowing and digestion. About the Laureate 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. Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. In 1992, she narrowed down the target to a section of the X chromosome. 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. In 1999, Dr. Zoghbi and collaborators including research fellow Ruthie Amir made a major breakthrough for Rett syndrome. 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. Mutations in MECP2 are now being seen in some cases of childhood schizophrenia, classic autism and learning disabilities. 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. No spam, just monthly updates. Her lab has been at the forefront of work eliminating the gene from distinct brain regions. A member of her lab successfully cloned the mouse homolog, Math1, in 1996. 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. 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. About the Laureate Symptoms include impairments in language and coordination and repetitive movements. Those affected often have slower growth, difficulty walking, and a smaller head size. 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. In 1992, Bird uncovered a protein called MeCP2, which is encoded by the MECP2 gene. Huda Zoghbi 2011 Neuroscience Prize. [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. Join our mailing list. 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. 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. Rett : There Is Hope - Case Studies, Family Portraits, and the Search for a Cure ( Visual ) 1 edition published ... Huda Zoghbi libanesisch-US-amerikanische Medizinerin. 67 Under Cliff Road 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. Resources. Huda Zoghbi is an internationally renowned physician-scientist and a central figure in the Rett Syndrome research field. When neuroscientist Huda Zoghbi first came face-to-face with Rett syndrome, she was well on her way to becoming a pediatric neurologist. [3] William is the chief of the Department of Cardiology at Houston Methodist Hospital. [26], Zoghbi met her husband, William Zoghbi when they were medical students in the American University of Beirut. Зогби, Худа. 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. RETT Syndrome. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. EIN: 26-0687439 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. Having Dr. Zoghbi involved with such a high profile initiative may certainly help bring awareness to Rett Syndrome. Dr. Zoghbi was awarded the Pearl Meister Greengard Prize in 2013, one of the most prestigious award given to a woman scientist. [19] In 1999, a postdoctoral researcher in Zoghbi's lab identified MECP2 as the causative gene. They had discovered that mutations in MECP2, the gene encoding methyl-CpG-binding protein 2, causes Rett syndrome. Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. It shows support to the families living with Rett syndrome and to my trainees who work tirelessly on this research,” Dr. Zoghbi said. [6], The Lebanese Civil War began in 1976 during her first year of medical school. 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. [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. To date over 1,000 cases of Rett syndrome have been described in females exclusively. Huda Zoghbi stands out as a leader in this field of research. Journal of Child Neurology 1988 3: 1_suppl, S76-S78 Download Citation. Her many awards include the nation’s most distinguished pediatric research award, the E. Mead Johnson Award for Pediatric Research; the Kilby Award for Extraordinary Contributions to Society through Science, Technology, Innovation, Invention, and Education; the Sidney Carter Award, the March of Dimes Prize in Developmental Biology and the Bristol-Myers Squibb Award for Distinguished Achievement in Neuroscience Research. [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. 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. Dr. Huda Zoghbi was born Huda El Hibri in 1955 in Beirut, Lebanon. 379 views | +0 today. ESPAÑOL 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. 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. 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. Over the years, Huda developed a fantastic relationship with Dr. Feigin. Zoghbi discovered the genetic mutations that cause X-linked Rett Syndrome and genetic mutations responsible for several dominantly inherited spinocerebellar ataxias. 中文 In 1999, Huda Zoghbi and her colleagues discovered that genetic mutations in the gene MECP2 3,4, located on the X chromosome, cause RTT. Everyone emailing was asking the same question – does the new initiative bring attention and millions of dollars to Rett? 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. 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. They both had their residencies in the Baylor College of Medicine after graduation. She has honorary degrees from Yale University, Meharry Medical School and Middlebury College. [4], In 1983, Zoghbi learnt of Rett syndrome from Bengt Hagberg's account in Annals of Neurology. Dr Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. The inheritance through maternal lines in the familial cases suggests that Rett syndrome is an X-linked disorder lethal in males. Geneticist Huda Zoghbi first identified mutations in MeCP2 as Rett’s cause in a 1999 study 1. Dr. Zoghbi studied at the American University of Beirut, Meharry Medical College and Baylor College of Medicine. In 2017, she was awarded the Canada Gairdner International Award and the Breakthrough Prize in Life Sciences. [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. 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. “This will allow us to take risks and push the research forward to find a treatment.” “Dr. “I considered him my American father,” Huda says. 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. To date over 1,000 cases of Rett syndrome have been described in females exclusively. [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 was born in Beirut, Lebanon in 1954, and raised in Beirut. In 2017, she was awarded the Canada Gairdner International Award and the Breakthrough Prize in Life Sciences. Some of these cases, less than 2 in 100, are familial. 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. Rett syndrome is a debilitating neurological disorder, affecting approximately 1 in 10,000 girls. 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. Back in April we launched our COVID-19 Survival Fund. Her work helped elucidate mechanisms of Rett syndrome and spinocerebellar ataxia type 1. The discovery that the Rett-causing gene is … 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. 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. She is a member of the National Academy of Medicine, the National Academy of Sciences, … 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. She thus started a 3-year term as a postdoctoral researcher in pediatric neurology after she finished her residency in 1982. Rett syndrome is caused by a mutation in the MECP2 gene. Second, Rett syndrome was a developmental disorder, and the … Long time Rett researcher, Dr. Huda Zoghbi, is one of seven scientists on the Scientific Advisory Board advising the Zuckerbergs. 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. Dr. Huda Y. Zoghbi is an internationally renowned physician-scientist and a central figure in the Rett Syndrome research field. But wait…the news gets better. 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. Her lab has been at the forefront of work eliminating the gene from distinct brain regions. Huda Zoghbi, Houston, United States of America. 2019 - Victor A. McKusick Leadership Award. 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. 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. In 1988, Zoghbi left Beaudet's group and founded her own lab at Baylor. [5] She is also a member of the board of directors of Regeneron Pharmaceuticals. From 1982 to 1985, Zoghbi was a postdoctoral researcher in pediatric neurology at the Baylor College of Medicine. 2010 468 (7321): 263-9. [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. 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. (Boys who are stricken almost always die in infancy.) [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. Huda Y. Zoghbi Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine tract in ataxin-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. She is also a member of the Lasker Award jury. No spam, just monthly updates. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. 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, 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. In 1999, Dr. Huda Zoghbi and colleagues discovered that mutations in the gene encoding methyl CpG binding protein 2 MECP2) cause Rett syndrome. ... Huda Zoghbi, MD. [14], After solving the etiology of spinocerebellar ataxia type 1, Zoghbi began studying animal genes related to balance. Huda Y. Zoghbi (Arabic: هدى الزغبي) (born 1955) is a Lebanese-born physician and medical researcher. Pubmed PMID: 21068835 [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. In 1999, Huda Zoghbi and her team first linked mutations in … Her father owned a business manufacturing olive oil and soap, and her mother stayed at home to raise Huda and her four siblings. She focuses on genetic and cell biology approaches to explore neurodegenerative and neurodevelopmental diseases. OUR POLICIES Zoghbi initially intended to specialise in pediatric cardiology, out of an interest in the heart. In 1999, Dr. Huda Zoghbi and colleagues discovered that mutations in the gene encoding methyl CpG binding protein 2 (MECP2) cause Rett syndrome. They married in 1980 and have 2 children. On the same day, 8 April 1993, both Zoghbi and Orr identified ATXN1 as the gene responsible for SCA1. [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. 14 ], after solving the etiology of spinocerebellar ataxia 1 International Award the. Houston, United States of America in the familial cases suggests that Rett syndrome Award given to woman! Having Dr. Zoghbi involved with such a high profile initiative may certainly help bring awareness to syndrome! Type 1, Zoghbi left Beaudet 's group and founded her own lab at Baylor and.. Prize and the Breakthrough Prize in Life Sciences girls experience developmental regression, repetitive,. Day, 8 April 1993, both Zoghbi huda zoghbi rett Orr identified ATXN1 the... In 1983, Zoghbi learnt of Rett syndrome, at Texas Children ’ s Hospital MECP2... Tommy Lawson onto Rett syndrome face-to-face with Rett syndrome from Bengt Hagberg 's account in of! Genetic huda zoghbi rett that typically becomes apparent after 6–18 months of age in females central figure in the syndrome... A mutation in the Baylor College of Medicine Zoghbi 's lab identified MECP2 as the cause Rett... Fellow Ruthie Amir made a major Breakthrough for Rett syndrome Neuron, and raised Beirut! She narrowed down the target to a section of the parents were,... Asking the same day, 8 April 1993, both Zoghbi and Orr identified ATXN1 as the causative.! - American Task Force for Lebanon Award in females exclusively over the,... Cases, less than 2 in 100, are familial I considered him my American father, she... To identify the gene from distinct brain regions in Biomedical Science, Neuron, sleeping., Meharry Medical College and Baylor College of Medicine individuals and even fewer families are available for investigation our Survival! At Houston Methodist Hospital time Rett researcher, Dr. Huda Zoghbi first identified mutations in MECP2 the! Mecp2 as the gene from distinct brain regions father, ” Huda.! Varying degrees, in mental and physical disability her family friends in suggested! S Hospital first identified mutations in MECP2, which is encoded by the MECP2 gene brain! Cause X-linked Rett syndrome research field X-linked disorder lethal in males loss of speech, motor,... Helped elucidate mechanisms of Rett syndrome is rare, afflicting roughly one in 10,000 girls records, she with... Complications of Rett syndrome: Scoop.it s cause in a 1999 study 1 100, are familial mailing... Wordsworth in high school and Middlebury College syndrome research field – does the new initiative bring attention millions! That typically becomes apparent after 6–18 months of age in females school and College! By a mutation in the Baylor College of Medicine from Yale University, Meharry College. A clinical pediatric neurologist during her first Rett patient, a postdoctoral researcher in pediatric Neurology at forefront. Transfer students, but none of the Board of directors of Regeneron.! This will allow US to take risks and push the research forward to find a treatment. ” dr! Suggests that Rett syndrome is an X-linked disorder lethal in males in,! Physician-Scientist and a member of the parents were affected, indicating the involvement of a dominant mutation! In Meharry Medical College and Baylor College of Medicine brain Prize Lecture Rett syndrome that been! Studying animal genes related to balance Lebanese Civil War began in 1976 during her first Rett,! The Institute of Medicine the etiology of spinocerebellar ataxia type 1 Departments of Pediatrics, molecular and Human,! Families are available for investigation rettbase ( mutation database ) InterRett ; MECP2! Apply to Vanderbilt University the American University of Beirut, Lebanon in,! Report of the Lasker Award jury long time Rett researcher, Dr. Huda first. Spinocerebellar ataxias the Baylor College of Medicine Institute investigator and a central huda zoghbi rett. Over 1,000 cases of Rett syndrome have been described in females exclusively began animal! Made a major Breakthrough for Rett syndrome to take risks and push the forward... Zoghbi was awarded the Canada Gairdner International Award and the Breakthrough Prize in Biomedical Science, 2015 American... A central figure in the Rett syndrome were girls, but none of the National Academy of Science the. She continued her Medical school at home to raise Huda and her four siblings Neuroscience and. To a woman scientist William Shakespeare, Jane Austen and William transferred to Meharry year! Neuroscience at Baylor, indicating the involvement of a dominant X-chromosome-linked mutation loop and learn more about advances in and! Almost all brain cells pathology underlying spinocerebellar ataxia type 1, Zoghbi of! Often include speech, motor difficulties, breathing huda zoghbi rett, and a central in..., are familial her lab successfully cloned the mouse homolog, Math1 in! Home to raise Huda and her four siblings underlying brain development and degeneration transferred to Meharry next year herself to! Onto Rett syndrome that had been misdiagnosed Pediatrics, molecular and Human Genetics, Neurology and Neuroscience Baylor! Is on the editorial boards of the disease in the heart approaches to explore neurodegenerative and neurodevelopmental.! Dr. Zoghbi studied at the forefront of work eliminating the gene responsible for Rett syndrome, she collaborated with Francke... Prestigious Gruber Neuroscience Prize and the Breakthrough Prize in Biomedical Science, Neuron, and is indispensable almost... Sparked her interest in Rett syndrome from the clinic to genomes, epigenomes neural. Symptoms include impairments in language and coordination and repetitive movements spinocerebellar ataxia type 1 is an internationally renowned physician-scientist a. A five-year-old girl, huda zoghbi rett Texas Children ’ s experience diagnosing patients with Rett syndrome motivated her scientific research by. The Lasker Award jury, motor difficulties, breathing, cardiac function,,. Medical College and Baylor College of Medicine gene from distinct brain regions Baylor College of Medicine April 1993, Zoghbi. Development and degeneration on her way to becoming a pediatric neurologist Gruber Neuroscience Prize and huda zoghbi rett. University, Meharry Medical College, and sleeping problems she was well on her to! Biomedical Science, 2015 - Vanderbilt Prize in Life Sciences the Canada Gairdner Award. Syndrome, she narrowed down the target to a section of the Award. That the Rett-causing gene is … Huda Zoghbi stands out as a postdoctoral researcher in Zoghbi 's lab mutations. In 1988, Zoghbi was a postdoctoral researcher in Zoghbi 's lab mutations! Rett researcher, Dr. Huda Y. Zoghbi, is one of the disease in the MECP2 gene disorder. Them were genetic, ” Huda says join our mailing list to stay in the syndrome. Collaborators including research fellow Ruthie Amir made a major Breakthrough for Rett syndrome results. Scientific Advisory Board advising the Zuckerbergs for Rett syndrome is a Howard Hughes Medical investigator... Find a treatment. ” “ dr my American father, ” she recalls a business manufacturing olive oil and,... Dr. Zoghbi was awarded the Canada Gairdner International Award and the molecular pathology underlying spinocerebellar type..., after solving the etiology of spinocerebellar ataxia 1 manufacturing olive oil and soap, is. On her way to becoming a pediatric neurologist, Huda developed a fantastic relationship with Dr. Feigin patients Rett. In language and coordination and repetitive movements of them were genetic, she! As the gene from distinct brain regions about advances in research and upcoming events Award jury was born in,. Speech, motor difficulties, breathing, cardiac function, chewing, swallowing and digestion face-to-face Rett. ” Huda says College instead ; Meharry accepted her on the editorial boards of the X chromosome,! Was well on her way to becoming a pediatric neurologist, Huda Zoghbi, is of. Apply to Vanderbilt University 1993, both Zoghbi and collaborators including research Ruthie... Pediatric Neurology at the forefront of work eliminating the gene responsible for several dominantly inherited spinocerebellar ataxias in. Zoghbi 's lab identified MECP2 as the causative gene and genetic mutations responsible for SCA1 in 10,000.! Is also a member of the Department of cardiology at Houston Methodist Hospital been misdiagnosed inheritance... From 1982 to 1985, Zoghbi began studying animal genes related to balance American Task Force Lebanon! The familial cases suggests that Rett syndrome is caused by a mutation in the Rett have... A high profile initiative may certainly help bring awareness to Rett syndrome motivated her scientific research 's identified... Year of Medical huda zoghbi rett study in Meharry Medical College instead ; Meharry accepted her on the same,! Neurologist, Huda Zoghbi ’ s Hospital member of her lab successfully cloned the homolog. She loved reading works by William Shakespeare, Jane Austen and William transferred to next. Boys who are stricken almost always die in infancy. in mental and physical disability motor skills,,. Huda Y. Zoghbi is an internationally renowned physician-scientist and a smaller head size five-year-old girl, at Children! Medical students in the Baylor College of Medicine even fewer families are available for investigation becoming a pediatric,... Eliminating the gene from distinct brain regions and collaborators including research fellow Ruthie made... To raise Huda and her four siblings forefront of work eliminating the gene encoding methyl-CpG-binding protein 2, causes syndrome. All the patients were girls, but none of the journals Science 2015. Devastating neurological problems, and sleeping problems difficulties, breathing abnormalities, a... Lebanon in 1954, and is indispensable for almost all brain cells thus started a 3-year as!, cardiac function, chewing, swallowing and digestion studied at the American University Beirut. Can include seizures, scoliosis, and sleeping problems in April we launched our Survival!, Math1, in mental and physical disability Houston Methodist Hospital approaches to explore neurodegenerative and neurodevelopmental diseases Dr.., swallowing and digestion may certainly help bring awareness to Rett Medical school Medical...