Arthur Beaudet Explained

Arthur L. Beaudet
Birth Place:Woonsocket, Rhode Island, U.S.
Fields:Molecular genetics
Workplaces:Baylor College of Medicine
Alma Mater:College of the Holy Cross (BS)
Yale University (MD)
Thesis Title:Differences in RNA codon recognition as a function of cellular tRNA content
Thesis Url:https://www.worldcat.org/oclc/41263229
Thesis Year:1967
Notable Students:Huda Zoghbi[1]
Awards:William Allan Award (1997)

Arthur L. Beaudet is an American physician who is the Henry and Emma Meyer Professor of Molecular and Human Genetics at Baylor College of Medicine, where he was the chairman of the Department of Molecular and Human Genetics at the Baylor College of Medicine.

Beaudet was inducted into the Institute of Medicine in 1995,[2] the Society of Scholars in 2008,[3] and into the National Academy of Sciences in 2011. He was previously the president of the American Society of Human Genetics.

Early life and education

Beaudet was born in Woonsocket, Rhode Island. He was educated at the College of the Holy Cross, where he received a Bachelor of Science (B.S.) in biology, magna cum laude, in 1963. He then received his Doctor of Medicine (M.D.), cum laude, from Yale Medical School in 1967.[4]

Beaudet completed a residency in pediatrics at Johns Hopkins Hospital in 1969 and a postdoctoral fellowship at the National Institutes of Health two years later. After his NIH fellowship ended in 1971, Beaudet began his affiliation with Baylor.[5] He retired from Baylor in January 2020.

Research

Beaudet began his research in the 1960s with studies on protein synthesis.[6] In the 1970s, Beaudet et al. demonstrated mutations in cultured somatic cells; he has also conducted much research on inborn errors of metabolism, particularly urea cycle disorders.[7] In 1988, Beaudet's laboratory published a paper regarding the mechanism by which uniparental disomy might cause certain types of human genetic disease.[8] This paper proposed four mechanisms for uniparental disomy, each of which has since been shown to occur.[5] His group co-discovered that the UBE3A gene was inactivated as the cause of Angelman syndrome,[9] and that deletion of the snoRNAs likely contributes to the Prader-Willi phenotype.[10] In collaboration with Isis (now Ionis) Pharmaceuticals he demonstrated that oligonucleotides could be used to activate the paternal allele of Ube3a in the mouse as a possible therapeutic correction in Angelman syndrome.[11]

Beaudet has published research on the possible association between the deficiency of a carnitine biosynthesis gene and risk of autism in boys,[12] and has contended that some of these cases of autism may be preventable through carnitine supplementation.[13] Beaudet has also developed a test which enables doctors to detect whether or not a child was conceived as a result of incest without testing either parent.[14] [15] Beaudet has worked for over a decade trying to develop a commercial form of cell-based noninvasive prenatal testing using fetal cells in the mother’s blood during the first trimester.[16] [17]

Beaudet has been an investigator at the Howard Hughes Medical Institute.

Notes and References

  1. https://www.nytimes.com/2005/03/22/science/22conv.html?pagewanted=print&position= Researchers Toil With Genes on the Fringe of a Cure
  2. Web site: Arthur L. Beaudet, M.D. . https://archive.today/20140219231901/http://www.iom.edu/global/directory/detail.aspx?id=0003000420 . dead . 19 February 2014 . . 19 February 2014 .
  3. http://www.jhu.edu/~gazette/2008/19may08/19society.html Society of Scholars Inducts New Members
  4. Web site: Beaudet, Arthur . 2024-06-30 . Pri-Med . en.
  5. Lupski . J. R. . Introduction of Arthur L. Beaudet, Harland Sanders Award Recipient . 10.1097/00125817-200209000-00012 . Genetics in Medicine . 4 . 5 . 396–398 . 2002 . 12394354. free .
  6. Lupski . J. R. . Allan Award Introduction: Arthur L. Beaudet . 10.1016/j.ajhg.2008.04.011 . The American Journal of Human Genetics . 82 . 5 . 1032–1033 . 2008 . 18610510. 2427270 .
  7. http://www.ucdmc.ucdavis.edu/mindinstitute/events/dls/abstracts/beaudetabstract.htm Arthur Beaudet
  8. Spence . J. E. . Perciaccante . R. G. . Greig . G. M. . Willard . H. F. . Ledbetter . D. H. . Hejtmancik . J. F. . Pollack . M. S. . O'Brien . W. E. . Beaudet . A. L. . Uniparental disomy as a mechanism for human genetic disease . American Journal of Human Genetics . 42 . 2 . 217–226 . 1988 . 2893543 . 1715272.
  9. Matsuura . T . Sutcliffe . JS . Fang . P . Galjaard . RJ . Jiang . YH . Benton . CS . Rommens . JM . Beaudet . AL . De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. . Nature Genetics . January 1997 . 15 . 1 . 74–7 . 10.1038/ng0197-74 . 8988172. 22923869 .
  10. Sahoo . T . del Gaudio . D . German . JR . Shinawi . M . Peters . SU . Person . RE . Garnica . A . Cheung . SW . Beaudet . AL . Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. . Nature Genetics . June 2008 . 40 . 6 . 719–21 . 10.1038/ng.158 . 18500341. 2705197 .
  11. Meng . L . Ward . AJ . Chun . S . Bennett . CF . Beaudet . AL . Rigo . F . Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. . Nature . 19 February 2015 . 518 . 7539 . 409–12 . 10.1038/nature13975 . 25470045. 4351819 . 2015Natur.518..409M .
  12. Celestino-Soper . P. B. S. . Violante . S. . Crawford . E. L. . Luo . R. . Lionel . A. C. . Delaby . E. . Cai . G. . Sadikovic . B. . Lee . K. . Lo . C. . Gao . K. . Person . R. E. . Moss . T. J. . German . J. R. . Huang . N. . Shinawi . M. . Treadwell-Deering . D. . Szatmari . P. . Roberts . W. . Fernandez . B. . Schroer . R. J. . Stevenson . R. E. . Buxbaum . J. D. . Betancur . C. . Scherer . S. W. . Sanders . S. J. . Geschwind . J. S. . M. E. . Wanders . R. J. A. . Sutcliffe . Hurles . D. H. . A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism . 10.1073/pnas.1120210109 . Proceedings of the National Academy of Sciences . 109 . 21 . 7974–7981 . 2012 . 22566635. 3361440. free .
  13. Beaudet . AL . Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis. . BioEssays . August 2017 . 39 . 8 . 10.1002/bies.201700012 . 28703319. 5642934 . free .
  14. 10.1016/S0140-6736(11)60201-8. Identification of incestuous parental relationships by SNP-based DNA microarrays. The Lancet. 377. 9765. 555–556. 2011. Schaaf . C. P. . Scott . D. A. . Wiszniewska . J. . Beaudet . A. L. . 21315943. 31316085. free.
  15. Web site: DNA tests could reveal unknown proof of incest . . 11 February 2011 . 19 February 2014 . Vergano, Dan.
  16. Bi . W . Breman . A . Shaw . CA . Stankiewicz . P . Gambin . T . Lu . X . Cheung . SW . Jackson . LG . Lupski . JR . Van den Veyver . IB . Beaudet . AL . Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. . Prenatal Diagnosis . January 2012 . 32 . 1 . 10–20 . 10.1002/pd.2855 . 22470934. 43511221 .
  17. Vossaert . L . Wang . Q . Salman . R . McCombs . AK . Patel . V . Qu . C . Mancini . MA . Edwards . DP . Malovannaya . A . Liu . P . Shaw . CA . Levy . B . Wapner . RJ . Bi . W . Breman . AM . Van den Veyver . IB . Beaudet . AL . Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis. . American Journal of Human Genetics . 5 December 2019 . 105 . 6 . 1262–1273 . 10.1016/j.ajhg.2019.11.004 . 31785788. 6904821 . free .

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