Wikipedia

Arthur Beaudet

Arthur L. Beaudet (born 1942) is an American physician-scientist 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.

Arthur L. Beaudet
Born1942 (age 81–82)
Woonsocket, Rhode Island, U.S.
Alma materCollege of the Holy Cross (BS)
Yale University (MD)
AwardsWilliam Allan Award (1997)[1]
Scientific career
FieldsMolecular genetics
InstitutionsBaylor College of Medicine
ThesisDifferences in RNA codon recognition as a function of cellular tRNA content (1967)
Notable studentsHuda Zoghbi[2]

Beaudet was inducted into the Institute of Medicine in 1995,[3] the Society of Scholars in 2008,[4] 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

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Beaudet was born in Woonsocket, Rhode Island.[5] 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 earned a Doctor of Medicine (M.D.), cum laude, from Yale Medical School in 1967.[6]

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

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Beaudet began his research in the 1960s with studies on protein synthesis.[1] 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 a principal investigator at the Howard Hughes Medical Institute.[18]

References

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  1. ^ a b Lupski, J. R. (2008). "Allan Award Introduction: Arthur L. Beaudet". The American Journal of Human Genetics. 82 (5): 1032–1033. doi:10.1016/j.ajhg.2008.04.011. PMC 2427270. PMID 18610510.
  2. ^ Researchers Toil With Genes on the Fringe of a Cure
  3. ^ "Arthur L. Beaudet, M.D." Institute of Medicine. Archived from the original on 19 February 2014. Retrieved 19 February 2014.
  4. ^ Society of Scholars Inducts New Members
  5. ^ a b c Lupski, J. R. (2002). "Introduction of Arthur L. Beaudet, Harland Sanders Award Recipient". Genetics in Medicine. 4 (5): 396–398. doi:10.1097/00125817-200209000-00012. PMID 12394354.
  6. ^ "Beaudet, Arthur". Pri-Med. Retrieved 2024-06-30.
  7. ^ Arthur Beaudet Archived December 6, 2013, at the Wayback Machine
  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. (1988). "Uniparental disomy as a mechanism for human genetic disease". American Journal of Human Genetics. 42 (2): 217–226. PMC 1715272. PMID 2893543.
  9. ^ Matsuura, T; Sutcliffe, JS; Fang, P; Galjaard, RJ; Jiang, YH; Benton, CS; Rommens, JM; Beaudet, AL (January 1997). "De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome". Nature Genetics. 15 (1): 74–7. doi:10.1038/ng0197-74. PMID 8988172. S2CID 22923869.
  10. ^ Sahoo, T; del Gaudio, D; German, JR; Shinawi, M; Peters, SU; Person, RE; Garnica, A; Cheung, SW; Beaudet, AL (June 2008). "Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster". Nature Genetics. 40 (6): 719–21. doi:10.1038/ng.158. PMC 2705197. PMID 18500341.
  11. ^ Meng, L; Ward, AJ; Chun, S; Bennett, CF; Beaudet, AL; Rigo, F (19 February 2015). "Towards a therapy for Angelman syndrome by targeting a long non-coding RNA". Nature. 518 (7539): 409–12. Bibcode:2015Natur.518..409M. doi:10.1038/nature13975. PMC 4351819. PMID 25470045.
  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, D. H.; Sutcliffe, J. S.; Hurles, M. E.; Wanders, R. J. A. (2012). "A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism". Proceedings of the National Academy of Sciences. 109 (21): 7974–7981. doi:10.1073/pnas.1120210109. PMC 3361440. PMID 22566635.
  13. ^ Beaudet, AL (August 2017). "Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis". BioEssays. 39 (8). doi:10.1002/bies.201700012. PMC 5642934. PMID 28703319.
  14. ^ Schaaf, C. P.; Scott, D. A.; Wiszniewska, J.; Beaudet, A. L. (2011). "Identification of incestuous parental relationships by SNP-based DNA microarrays". The Lancet. 377 (9765): 555–556. doi:10.1016/S0140-6736(11)60201-8. PMID 21315943. S2CID 31316085.
  15. ^ Vergano, Dan (11 February 2011). "DNA tests could reveal unknown proof of incest". USA Today. Retrieved 19 February 2014.
  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 (January 2012). "Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays". Prenatal Diagnosis. 32 (1): 10–20. doi:10.1002/pd.2855. PMID 22470934. S2CID 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 (5 December 2019). "Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis". American Journal of Human Genetics. 105 (6): 1262–1273. doi:10.1016/j.ajhg.2019.11.004. PMC 6904821. PMID 31785788.
  18. ^ Institute of Medicine (US) Roundtable on Research and Development of Drugs, Biologics; Yaffe, Sumner (2000), "Biographies", Rational Therapeutics for Infants and Children: Workshop Summary, National Academies Press (US), retrieved 2024-06-30
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