Huda Zoghbi libanesisk neurolog.  Her team went on to find that, in addition to its involvement in balance and coordination, Math1 is also crucial to hearing  and the formation of secretory cells in the gut. In 1992, she narrowed down the target to a section of the X chromosome. Rett syndrome is rare, afflicting roughly one in 10,000 girls. 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. To Continue Reading . About the Laureate In 1999, Dr. Huda Zoghbi and colleagues discovered that mutations in the gene encoding methyl CpG binding protein 2 (MECP2) cause Rett syndrome. Zoghbi was born in Beirut in 1954. 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. 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. 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. 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.  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.  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.  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. Dr. Zoghbi was awarded the Pearl Meister Greengard Prize in 2013, one of the most prestigious award given to a woman scientist. She is a member of the National Academy of Medicine, the National Academy of Sciences, … Huda Zoghbi’s experience diagnosing patients with Rett syndrome motivated her scientific research. The main reason is that very few individuals and even fewer families are available for investigation. 2010 468 (7321): 263-9. Those affected often have slower growth, difficulty walking, and a smaller head size. 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. Zoghbi, Huda. In 2017, she was awarded the Canada Gairdner International Award and the Breakthrough Prize in Life Sciences. Prize alongside Dr Huda Zoghbi. , Zoghbi met her husband, William Zoghbi when they were medical students in the American University of Beirut. , The Lebanese Civil War began in 1976 during her first year of medical school. Rettbase (mutation database) InterRett; OMIM MECP2; OMIM Rett Syndrome; Patient Tissue. Long time Rett researcher, Dr. Huda Zoghbi, is one of seven scientists on the Scientific Advisory Board advising the Zuckerbergs. 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. She went on to discover the gene Math1 and the molecular pathology underlying spinocerebellar ataxia 1. 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. 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. 中文 Brain Prize Lecture Rett syndrome from the clinic to genomes, epigenomes and neural circuits. Some of these cases, less than 2 in 100, are familial. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. Symptoms include impairments in language and coordination and repetitive movements. Dr. Huda Y. Zoghbi is an internationally renowned physician-scientist and a central figure in the Rett Syndrome research field.  William is the chief of the Department of Cardiology at Houston Methodist Hospital. 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. To date over 1,000 cases of Rett syndrome have been described in females exclusively. In 2011 she won the prestigious Gruber Neuroscience Prize and the Scolnick Prize. 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. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. 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. EIN: 26-0687439 Her lab has been at the forefront of work eliminating the gene from distinct brain regions.  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. 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. 2019 - Victor A. McKusick Leadership Award. Huda Zoghbi wants to understand the mechanisms underlying brain development and degeneration.  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