Huda Zoghbi

Huda Zoghbi
Born 1955 (age 60–61)
Beirut, Lebanon
Nationality Lebanese
Fields Genetics, neuroscience
Institutions Baylor College of Medicine, Texas Children's Hospital, Howard Hughes Medical Institute
Alma mater American University of Beirut, Meharry Medical College
Known for Study of Rett syndrome and spinocerebellar ataxias
Notable awards elected National Academy of Sciences (2004)
Gruber Prize in Neuroscience (2011)
Pearl Meister Greengard Prize (2013)
Shaw Prize (2016)

Huda Y. Zoghbi (Arabic: هدى الزغبي) (born 1955)[1] is a Lebanese-born physician and medical researcher. She is a professor in the departments of Pediatrics, Molecular and Human Genetics, and Neurology and Neuroscience at Baylor College of Medicine, the director of the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, and an investigator of the Howard Hughes Medical Institute. Her work has elucidated mechanisms of Rett syndrome and spinocerebellar ataxias.[2]

Early life and education

Zoghbi was born Huda El-Hibri in Beirut, Lebanon in 1955.[2] She developed a love of Shakespeare and other English-language poets in high school and intended to study literature at university, but her mother persuaded her to study biology instead.[3] Zoghbi was admitted as a biological sciences major at the American University of Beirut in 1973 and entered the university's medical school in 1975.[2] The Lebanese Civil War began during her first year of medical school. Out of concern for their safety, Zoghbi and her brothers were sent by the family to live with a sister in Texas. When she was unable to return to Lebanon, Zoghbi obtained mid-term admission to Meharry Medical College in Nashville, Tennessee, where she earned her M.D. in 1979.[4] Zoghbi completed her first residency at Baylor College of Medicine in pediatrics in 1982 and a joint residency and fellowship in neurology and pediatric neurology in 1985.[5]

Research

In 1983 Zoghbi was introduced to Rett syndrome by Bengt Hagberg's account in Annals of Neurology. Though Rett syndrome was largely unrecognized by neurologists at the time, this account allowed Zoghbi to diagnose a five-year-old she treated at Texas Children's Hospital. A week later Zoghbi saw another patient with the same set of symptoms.[2] When she investigated medical records, she found more cases of Rett syndrome that had been misdiagnosed. After she completed her second residency, her desire to understand the cause of Rett syndrome and other neurological disorders led her to a postdoctoral research fellowship with molecular geneticist Arthur Beaudet.[6] Zoghbi founded her own lab at Baylor College of Medicine in 1988.[2]

Spinocerebellar ataxia type 1

Though it was her interest in Rett syndrome that motivated Zoghbi to pursue research, Beaudet suggested that she begin her research career with a more approachable problem. She began work on spinocerebellar ataxia type 1 (SCA1), a progressive neurodegenerative disorder, in collaboration with Harry Orr at the University of Minnesota.[6] On the same day in April 1993, both Zoghbi and Orr identified ATXN1 as the gene responsible for SCA1.[3][5] They determined that the disease was caused by an expansion of the glutamine-coding CAG trinucleotide repeat in this gene. Further work by Zoghbi, Orr, and colleagues demonstrated that the misfolding, aggregation, and degradation of the protein product of this gene, ataxin-1, play a role in the disorder, a finding relevant to other, more common neurodegenerative diseases such as Alzheimer's.[2][6]

Math1

After Hugo J. Bellen described the role of the atonal gene in balance in fruit flies, Zoghbi chose to study the mammalian homolog to learn more about the genetics of balance. A member of her lab successfully cloned the mouse homolog, Math1, in 1996. In addition to its involvement in balance and coordination, Zoghbi and other investigators showed that Math1 is also crucial to hearing, newborn breathing, and the formation of secretory cells in the gut.[2][7] Aberrant activation of Math1 can lead to medulloblastoma, a common childhood brain tumor. Zoghbi's lab has shown that mice that do not express Math1 do not develop the tumor.[6] Current studies of Math1 are providing new information on a variety of disorders including deafness, cancer, and respiratory disorders.[7]

Rett syndrome

Early in Zoghbi's research career, her colleagues, reviewers, and funding agencies were not enthusiastic about Rett syndrome. It was difficult to determine if the disease had a genetic component, since most families only have one person affected with the disorder. In addition, there were few families available for study. However, Zoghbi continued to work on Rett syndrome in addition to other projects in her lab. She and collaborators Carolyn Schannen and Uta Francke from Stanford had identified three families for study by 1997. In August 1999, 16 years after meeting her first patient with Rett syndrome, Zoghbi and collaborators identified MECP2 as the causative gene.[2][3][6] When they examined MECP2 in patients with other neurological disorders, they found that mutations in the gene can result in other phenotypes ranging from learning disabilities to autism spectrum disorders. Current work in Zoghbi's lab strives to determine specific neuronal populations that contribute to phenotypes observed in MECP2 disorders through deletion of the gene in select cell types.[7]

Awards and honors

Zoghbi has been elected to the National Academy of Sciences,[8] the Institute of Medicine, and the American Association for the Advancement of Science. She has been named an honorary doctor of medical sciences by Yale University[9] and was conferred honorary doctorates of science from Meharry Medical School,[10] and Middlebury College.[11] She has earned numerous other awards for her work, listed below.

Personal life

Huda Zoghbi met William Zoghbi when they were medical students in Beirut, and they later married; he teaches cardiology at Baylor.[4] She has a daughter and a son.[6]

References

  1. ↑ Silverthorne, Elizabeth; Fulgham, Geneva (1997). Women Pioneers in Texas Medicine. Texas A & M University Press. p. 188. ISBN 978-0-89096-789-8.
  2. 1 2 3 4 5 6 7 8 Nuzzo, R. (2006). "Inaugural Article: Profile of Huda Y. Zoghbi". Proceedings of the National Academy of Sciences. 103 (9): 3017–3019. doi:10.1073/pnas.0509604103. PMC 1413894Freely accessible. PMID 16492741.
  3. 1 2 3 Chiaet, Julianne (December 24, 2013). "Neuroscientist Who Doggedly Pursued Genetic Hunch Wins Pearl Meister Greengard Prize". Scientific American. Retrieved 14 January 2015.
  4. 1 2 Dreifus, Claudia (March 22, 2005). "Researchers Toil With Genes on the Fringe of a Cure". The New York Times.
  5. 1 2 3 "2013 Dickson Prize Winner". Dickson Prize in Medicine. Retrieved 14 January 2015.
  6. 1 2 3 4 5 6 7 "2011 Neuroscience Prize Huda Zoghbi". The Gruber Foundation. Retrieved 14 January 2015.
  7. 1 2 3 "Huda Y. Zoghbi, MD Research Abstract". HHMI.org. Retrieved 15 January 2015.
  8. ↑ "Huda Zoghbi". National Academy of Sciences. Retrieved 15 January 2015.
  9. ↑ "Yale awards 12 honorary degrees at 2014 graduation". YaleNews. Retrieved 15 January 2015.
  10. ↑ "First Two Non African-American Graduates of Meharry Medical College to Receive Awards at 2008 Fall Convocation". PRWeb. Retrieved 15 January 2015.
  11. ↑ "Former President Clinton to deliver Middlebury College commencement address May 27". Middlebury. Retrieved 15 January 2015.
  12. ↑ "Jessie Stevenson Kovalenko Medal". National Academy of Science. Retrieved 8 November 2016.
  13. ↑ Shaw Prize 2016
  14. ↑ Jennings, Charles. "McGovern Institute to honor neurogenetics researcher Huda Zoghbi". McGovern Institute for Brain Research at MIT. Retrieved 15 January 2015.
  15. ↑ "Zoghbi awarded 2014 March of Dimes Prize in Developmental Biology". Baylor College of Medicine News. Retrieved 15 January 2015.
  16. ↑ "Huda Y. Zoghbi, pediatric neurologist, to receive 2013 Pearl Meister Greengard Prize". The Rockefeller University Newswire. Retrieved 15 January 2015.
  17. ↑ "Texas Children's Hospital Neuroscientist Dr. Huda Zoghbi Receives 2011 Legacy Award from The Brookwood Community". Texas Children's Hospital. Retrieved 15 January 2015.
  18. ↑ "Marion Spencer Fay Award Recipients" (PDF). Drexel University College of Medicine. Retrieved 15 January 2015.
  19. ↑ "International Rett Syndrome Foundation recognizes Dr. Huda Zoghbi, Dr. Alan Percy". EurekAlert! Science News. Retrieved 15 January 2015.
  20. ↑ "2009 Prize Recipients". The Vilcek Foundation. Retrieved 15 January 2015.
  21. ↑ "Zoghbi, Huda". Texas Women's University. Retrieved 15 January 2015.
  22. ↑ "Neurosciences". Fondation IPSEN. Retrieved 15 January 2015.
  23. ↑ "Raymond D. Adams Lectureship". American Neurological Association. Retrieved 15 January 2015.
  24. 1 2 Almond, B.J. "Dr. Huda Zoghbi's Quest for Answers". Texas Medical Center News. Retrieved 15 January 2015.
  25. ↑ "Soriano Lectureship". American Neurological Association. Retrieved 15 January 2015.
  26. ↑ "E. Mead Johnson Award in Pediatric Research". American Pediatric Society/Society for Pediatric Research. Retrieved 15 January 2015.
  27. ↑ "Past Laureates". The Kilby International Awards Foundation. Retrieved 15 January 2015.

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