Arthur Beaudet

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Arthur L. Beaudet
Born Woonsocket, Rhode Island
Alma mater College of the Holy Cross, Yale School of Medicine
Awards March of Dimes/Col. Harland Sanders Award for lifetime achievement in genetic sciences,[1] William Allan Award (1997)[2]
Scientific career
Fields Molecular genetics
Institutions Baylor College of Medicine
Thesis Differences in RNA codon recognition as a function of cellular tRNA content (1967)
Notable students Huda Zoghbi[3]

Arthur L. Beaudet is a professor and chair of molecular and human genetics at Baylor College of Medicine. He was inducted into the Institute of Medicine in 1995,[4] the Society of Scholars in 2008[1] and into the National Academy of Sciences in 2011.[5]

Early life and education[edit]

Beaudet was born in Woonsocket, Rhode Island. He received a bachelor's degree from the College of the Holy Cross in 1963 and received his MD from Yale Medical School in 1967. He 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.[6]

Research[edit]

Beaudet began his research in the 1960s with studies on protein synthesis.[2] 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.[6] In the late 1980s and early 1990s, Beaudet worked on developing a screening test for cystic fibrosis.[9]

More recently, Beaudet has published research on the possible association between the deficiency of a carnitine biosynthesis gene and risk of autism in boys,[10][11] and has contended that some of these cases of autism may be preventable through carnitine supplementation.[12][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] Other disorders Beaudet's lab conducts research on include Prader-Willi syndrome and Angelman syndrome.[5] Beaudet led the decision by Baylor to acquire a DEPArray™ system from Silicon Biosystems in 2011 for use in his research; Beaudet hopes to use the technology to collect fetal cells from the mother's blood for testing as opposed to collecting them using amniocentesis, which is more invasive and dangerous.[16]

References[edit]

  1. ^ a b Society of Scholars Inducts New Members
  2. ^ 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. 
  3. ^ Researchers Toil With Genes on the Fringe of a Cure
  4. ^ "Arthur L. Beaudet, M.D.". Institute of Medicine. Archived from the original on 19 February 2014. Retrieved 19 February 2014. 
  5. ^ a b Arthur Beaudet
  6. ^ a b Lupski, J. R. (2002). "Introduction of Arthur L. Beaudet, Harland Sanders Award Recipient". Genetics in Medicine. 4 (5): 396–398. PMID 12394354. doi:10.1097/00125817-200209000-00012. 
  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 1715272Freely accessible. PMID 2893543. 
  9. ^ Stanley, Dick (30 December 1990). "Efforts To Screen For Cystic Fibrosis Stall". Chicago Tribune. Retrieved 14 November 2014. 
  10. ^ 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. PMC 3361440Freely accessible. PMID 22566635. doi:10.1073/pnas.1120210109. 
  11. ^ "New Findings on Autism and Carnitine". Autism Speaks. 7 May 2012. Retrieved 6 December 2013. 
  12. ^ Autism: A new genetic approach
  13. ^ Correa, Manuel (8 February 2013). "Autism researcher hypothesizes disorder factors". The Daily Gamecock. Retrieved 6 December 2013. 
  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. PMID 21315943. doi:10.1016/S0140-6736(11)60201-8. 
  15. ^ Vergano, Dan (11 February 2011). "DNA tests could reveal unknown proof of incest". USA Today. Retrieved 19 February 2014. 
  16. ^ Silicon Biosystems Announces Sale to Baylor College of Medicine