huda zoghbi rett

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. EIN: 26-0687439 [14], After solving the etiology of spinocerebellar ataxia type 1, Zoghbi began studying animal genes related to balance. Long time Rett researcher, Dr. Huda Zoghbi, is one of seven scientists on the Scientific Advisory Board advising the Zuckerbergs. Dr Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. [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. 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. 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. On the same day, 8 April 1993, both Zoghbi and Orr identified ATXN1 as the gene responsible for SCA1. Huda Zoghbi stands out as a leader in this field of research. Vanderbilt did not accept transfer students, but recommended Meharry Medical College instead; Meharry accepted her on the spot. Those affected often have slower growth, difficulty walking, and a smaller head size. To Continue Reading . 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.. [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. Zoghbi was born in Beirut in 1954. Rett Syndrome research 1 . Huda Y. Zoghbi (Arabic: هدى الزغبي) (born 1955) is a Lebanese-born physician and medical researcher. Dr. Huda Zoghbi. 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 … About the Laureate 67 Under Cliff Road 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. 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. Rettbase (mutation database) InterRett; OMIM MECP2; OMIM Rett Syndrome; Patient Tissue. She is a Howard Hughes Medical Institute investigator and a member of the National Academy of Science and the Institute of Medicine. 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. 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. [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. 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. In the 1990s, she collaborated with Uta Francke from Stanford University to identify the gene responsible for Rett syndrome. 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. 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. Join our mailing list. She went on to discover the gene Math1 and the molecular pathology underlying spinocerebellar ataxia 1. Long time Rett researcher, Dr. Huda Zoghbi, is one of seven scientists on the Scientific Advisory Board advising the Zuckerbergs. [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. 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. In 1988, Zoghbi left Beaudet's group and founded her own lab at Baylor. 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 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. In 1992, Bird uncovered a protein called MeCP2, which is encoded by the MECP2 gene. Huda Zoghbi was born in Beirut, Lebanon in 1954, and raised in Beirut. 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. This sparked her interest in Rett syndrome, at a time when there was no report of the disease in the US. 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. Huda Zoghbi wants to understand the mechanisms underlying brain development and degeneration. 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. [3] William is the chief of the Department of Cardiology at Houston Methodist Hospital. 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. The discovery that the Rett-causing gene is … In 1977, she continued her medical school study in Meharry Medical College, and William transferred to Meharry next year. [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. Prize alongside Dr Huda Zoghbi. 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. In 1992, she narrowed down the target to a section of the X chromosome. In 2017, she was awarded the Canada Gairdner International Award and the Breakthrough Prize in Life Sciences. Huda Zoghbi, Houston, United States of America. 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