Huda Zoghbi

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Huda Zoghbi

Huda Yahya Zoghbi (born Huda El-Hibri ; born June 20, 1954 in Beirut ) is a Lebanese-American neurologist .

Life

Zoghbi studied biology (with a bachelor's degree in 1976) and from 1975 medicine at the American University of Beirut (AUB), but was unable to continue her studies due to the ensuing civil war and was sent with her brothers by her parents to relatives in the USA. There she continued her studies at Meharry Medical College in Nashville (MD degree 1979), where she specialized in neurology. 1979 to 1982 she completed her residency in pediatrics at Baylor College of Medicine in Houston, followed by residency in neurology and pediatric neurology (residency 1982 to 1985). From 1985 to 1988 she was a post-doctoral student , assistant professor in 1988, associate professor in 1991 and professor in 1994. She is Professor in the Pediatrics, Molecular and Human Genetics and Neuroscience Departments at Baylor College of Medicine and Director of the Jan and Dan Duncan Neurological Research Institute. She has also been a scientist at the Howard Hughes Medical Institute since 1996.

In 2003 she received the W. Alden Spencer Award , 2011 the Gruber Prize for Neuroscience , 2006 the Bristol-Myers-Squibb Neuroscience Distinguished Achievement Award, the Kilby Award, the E. Mead Johnson Award of the Society for Pediatric Research, and in 2007 the Robert J. . and Claire Pasarow Foundation Award in Neuropsychiatry, the Perl-UNC Neuroscience Prize, and the Sidney Carter Award from the American Academy of Neurology. In 2013 she was awarded the Dickson Prize in Medicine and the Pearl Meister Greengard Prize , and in 2014 the March of Dimes Prize in Developmental Biology . Also in 2014, Yale University awarded her an honorary doctorate . In 2016 she was awarded the Jessie Stevenson Kovalenko Medal and the Nemmers Prize for Medicine as well as the Shaw Prize . For 2017 she was awarded the Breakthrough Prize in Life Sciences and a Canada Gairdner International Award , for 2019 the Victor A. McKusick Leadership Award from the American Society of Human Genetics . She is a member of the Institute of Medicine of the National Academy of Sciences, the National Academy of Sciences , the American Academy of Arts and Sciences, and the American Association for the Advancement of Science . In 2020 she received the Brain Prize from the Danish Lundbeck Foundation.

She is married to William Zoghbi, who teaches cardiology at Baylor College and who studied with her in Lebanon.

plant

Zoghbi discovered the genes responsible for some neurological diseases and clarified the mechanism of their formation at the molecular level. This was the case with Rett syndrome , which mainly affects girls and leads to developmental disabilities and the loss of basic skills such as language, walking and the ability to use hands in a coordinated manner after the first 6 to 18 months. Zoghbi and colleagues found the MECP2 gene on the X chromosome to be the cause, which is important for the development of mature nerve cells. MECP 2 is also implicated in other forms of developmental delay, autism, and cases of psychosis. Zoghbi was able to reproduce most of the symptoms of Rett syndrome in the mouse model by deletion mutation of MECP 2 and found that a mutation with over-expression of MECP 2 leads to neurodegenerative diseases.

Zoghbi also found the gene responsible for type 1 spinocerebellar ataxia (SCA 1) and the cause of this neurodegenerative disease, which deprives patients of basic motor skills and ultimately even hinders swallowing and breathing. In the pathogenic form of the gene, a repeat sequence of the amino acid sequence CAG (which codes for glutamine), which normally comprises 30 copies, has grown to 40 to 100, which ultimately results in a malformation of the protein ataxin-1 encoded in the gene causes the affected neurons to lose their functionality. Zoghbi is also looking for drugs in animal models that alleviate the effects of the overproduction of ataxin-1 in this disease and dissolve the tangles that this protein forms in the cell.

Web links

Commons : Huda Zoghbi  - collection of images, videos and audio files

Individual evidence

  1. ↑ Biographies of the 2014 honorands at Yale University (yale.edu); Retrieved June 9, 2014
  2. ^ ASHG Honors Huda Zoghbi with Victor A. McKusick Leadership Award. In: ashg.org. American Society of Human Genetics , July 22, 2019, accessed July 22, 2019 .
  3. ↑ Brain Prize 2020
  4. ↑ Amir, Van den Veyver, Wan, Tran, Francke, Zoghbi Rett Syndrome is caused by mutations in x-linked MECP, encoding methyl-CpG-binding protein 2 , Nature Genetics, Volume 23, 1999, pp 185-188
personal data
SURNAME Zoghbi, Huda
ALTERNATIVE NAMES Zoghbi, Huda Y .; Zoghbi, Huda Yahya; El-Hibr, Huda (maiden name)
BRIEF DESCRIPTION Lebanese-American neurologist
DATE OF BIRTH June 20, 1954
PLACE OF BIRTH Beirut