Zoghbi, Huda. In 1999, Huda Zoghbi and her team first linked mutations in … 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 Y. Zoghbi (Arabic: هدى الزغبي) (born 1955) is a Lebanese-born physician and medical researcher. 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 libanesisk neurolog. Her father owned a business manufacturing olive oil and soap, and her mother stayed at home to raise Huda and her four siblings. ESPAÑOL 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. 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 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. Zoghbi discovered the genetic mutations that cause X-linked Rett Syndrome and genetic mutations responsible for several dominantly inherited spinocerebellar ataxias. 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. In 1999, after a 16-year search, the Zoghbi lab identified mutations in the MECP2 gene as the cause of Rett Syndrome. 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 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. In 1999, Huda Zoghbi and her colleagues discovered that genetic mutations in the gene MECP2 3,4, located on the X chromosome, cause RTT. Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age in females. 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. Long time Rett researcher, Dr. Huda Zoghbi, is one of seven scientists on the Scientific Advisory Board advising the Zuckerbergs. 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. In 1988, Zoghbi left Beaudet's group and founded her own lab at Baylor. , Since most patients of Rett syndrome were girls, and symptoms were very consistent across patients, Zoghbi believed genetics were involved in the disease process.  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