Arthur Beaudet

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]

Arthur L. Beaudet
Born
Woonsocket, Rhode Island
Alma materCollege of the Holy Cross, Yale School of Medicine
AwardsMarch of Dimes/Col. Harland Sanders Award for lifetime achievement in genetic sciences,[1] William Allan Award (1997)[2]
Scientific career
FieldsMolecular genetics
InstitutionsBaylor College of Medicine
ThesisDifferences in RNA codon recognition as a function of cellular tRNA content (1967)
Notable studentsHuda Zoghbi[3]

Early life and education

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

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]

gollark: Or use emacs, which I have been told is a popular OS.
gollark: Why even use an OS? Just write your code on bare metal!
gollark: At least x86 actually HAS standardized booting, unlike certain other architectures beginning with A and ending with RM.
gollark: The great thing about standards is how many there are to pick from.
gollark: Though most popular ISAs are going that way. Look at ARM. It has... JS floating point conversion instructions?

References
  1. Society of Scholars Inducts New Members
  2. 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.
  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. Arthur Beaudet
  6. 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.
  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. 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. doi:10.1073/pnas.1120210109. PMC 3361440. PMID 22566635.
  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. doi:10.1016/S0140-6736(11)60201-8. PMID 21315943.
  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
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