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Arthur Beaudet

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Arthur L. Beaudet
Born1942 (age 83–84)
Woonsocket, Rhode Island, U.S.
EducationCollege of the Holy Cross (BS)
Yale University (MD)
AwardsWilliam Allan Award (1997)[1]
Scientific career
FieldsMolecular genetics
WorkplacesBaylor College of Medicine
ThesisDifferences in RNA codon recognition as a function of cellular tRNA content (1967)
Notable students
Huda Zoghbi[2]

Arthur L. Beaudet (born 1942) is an American physician-scientist known for his research in human genetics. He is the Henry and Emma Meyer Professor of Molecular and Human Genetics at the Baylor College of Medicine, where he is a joint professor of molecular biology, cell biology, and pediatrics and was previously the chairman of the Department of Molecular and Human Genetics.

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 raised Catholic, served as an altar boy, and had an interest in baseball during his childhood.[6]

Beaudet graduated from the College of the Holy Cross in Worcester, Massachusetts, with a Bachelor of Science in biology, magna cum laude, in 1963. He then earned his Doctor of Medicine (M.D.), cum laude, from the Yale School of Medicine in 1967.[7] During his junior year of medical school, he was elected to the Alpha Omega Alpha medical honor society.[5] While still a medical student in 1966, Beaudet began conducting research in human and mammalian genetics as a summer student at the National Institutes of Health (NIH), working in the laboratory of C. Thomas Caskey within a research unit headed by Marshall Nirenberg.[8] His medical dissertation at Yale was titled, "Differences in RNA codon recognition as a function of cellular tRNA content".[9]

After medical school, Beaudet completed his internship and residency in pediatrics at the Harriet Lane Pediatric Service of the Johns Hopkins School of Medicine, finishing in 1969.[10] He then returned to the NIH as a full-time research associate, again working with Caskey in Nirenberg's research group, where his work included studies of protein translation.[8][6] Beaudet remained at the NIH for two years, from 1969 to 1971.[11][6]

Academic career

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Beaudet joined the faculty of the Baylor College of Medicine in 1971, when he and C. Thomas Caskey were recruited from the NIH to lead Baylor's developing program in genetics.[12] In 1976, they established a clinical training program for investigators in genetics and biomedical research.[12]

When Baylor established an Institute for Molecular Genetics in 1985 and converted it into the Department of Molecular and Human Genetics in 1994, Beaudet became chair of the department in 1995 and remained in that position until 2014.[12][13] He was appointed to Baylor's Henry and Emma Meyer Chair in Molecular Genetics in 1996.[14] He also held professorships in pediatrics and molecular and cellular biology and served as an investigator with the Howard Hughes Medical Institute.[15] He stepped down as chair in 2014.[16]

Beaudet served as the president of the American Society of Human Genetics (ASHG) in 1998.[17] He was also an editor of the sixth through eighth editions of The Metabolic and Molecular Bases of Inherited Disease, and served on a number of scientific editorial boards and national review panels.[18] He was elected to the Institute of Medicine in 1995 and to the National Academy of Sciences in 2011.[19][20] ASHG awarded him the William Allan Award for lifetime contributions to human genetics in 2007 and the Victor A. McKusick Leadership Award in 2017.[21] In 2008, Johns Hopkins University elected Beaudet to its Society of Scholars, which recognizes former Hopkins trainees who subsequently achieved distinction in their fields.[22]

In 2020, Beaudet left Baylor to serve as founder and chief executive officer of Luna Genetics, a genetic testing company. He returned to Baylor in 2024 as a professor in the Department of Molecular and Human Genetics.[23]

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.[24] In 1988, Beaudet's laboratory published a paper regarding the mechanism by which uniparental disomy might cause certain types of human genetic disease.[25] 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,[26] and that deletion of the snoRNAs likely contributes to the Prader-Willi phenotype.[27] 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.[28]

Beaudet has published research on the possible association between the deficiency of a carnitine biosynthesis gene and risk of autism in boys,[29] and has contended that some of these cases of autism may be preventable through carnitine supplementation.[30] 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.[31][32] 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.[33][34]

References

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  1. 1 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. PMID 18610510.
  2. ↑ Researchers Toil With Genes on the Fringe of a Cure
  3. ↑ "Arthur L. Beaudet, M.D." Institute of Medicine. Retrieved 19 February 2014.{{cite web}}: CS1 maint: deprecated archival service (link)
  4. ↑ Society of Scholars Inducts New Members
  5. 1 2 3 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. 1 2 3 Lee, Brendan (March 1, 2018). "2017 Victor A. McKusick Leadership Award Introduction: Arthur L. Beaudet". The American Journal of Human Genetics. 102 (3): 359–360. doi:10.1016/j.ajhg.2018.01.022. PMC 5985278. PMID 29499162.
  7. ↑ "Beaudet, Arthur". Pri-Med. Retrieved 2024-06-30.
  8. 1 2 Beaudet, Arthur L. (May 2008). "Allan Award Lecture: Rare Patients Leading to Epigenetics and Back to Genetics". The American Journal of Human Genetics. 82 (5): 1034–1038. doi:10.1016/j.ajhg.2008.04.009. PMC 2427262. PMID 18468009.
  9. ↑ Beaudet, Arthur (1967-01-01). "Differences in RNA codon recognition as a function of cellular tRNA content". Yale Medicine Thesis Digital Library.
  10. ↑ Lupski, James R. (September–October 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.
  11. ↑ Institute of Medicine (2013). "Appendix B: Speaker Biographical Sketches". The Economics of Genomic Medicine: Workshop Summary. Washington, D.C.: National Academies Press. p. 88. doi:10.17226/18276.
  12. 1 2 3 Department of Molecular & Human Genetics 2014–2024: A Decade of Innovation, Service, and Achievement (PDF) (Report). Baylor College of Medicine. 2025. p. 4. Retrieved September 10, 2026.
  13. ↑ Beaudet, Arthur L. (June 2016). "Using fetal cells for prenatal diagnosis: History and recent progress". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172 (2): 123–127. doi:10.1002/ajmg.c.31487.
  14. ↑ "Arthur L Beaudet, M.D." Baylor College of Medicine. Retrieved September 10, 2026.
  15. ↑ "Biographies". Rational Therapeutics for Infants and Children: Workshop Summary. Washington, D.C.: National Academies Press. 2000. Retrieved September 10, 2026.
  16. ↑ Lee, Brendan (March 1, 2018). "2017 Victor A. McKusick Leadership Award Introduction: Arthur L. Beaudet". The American Journal of Human Genetics. 102 (3): 359–360. doi:10.1016/j.ajhg.2018.01.022. PMC 5985278. PMID 29499162.
  17. ↑ "Past Presidents". American Society of Human Genetics. Retrieved September 10, 2026.
  18. ↑ "Speaker Biographical Sketches". The Economics of Genomic Medicine: Workshop Summary. Washington, D.C.: National Academies Press. 2013. Retrieved September 10, 2026.
  19. ↑ "Arthur Beaudet". Annual Clinical Genetics Meeting. American College of Medical Genetics and Genomics. Retrieved September 10, 2026.
  20. ↑ "Arthur L. Beaudet". National Academy of Sciences. Retrieved September 10, 2026.
  21. ↑ "Past Award Recipients". American Society of Human Genetics. Retrieved September 10, 2026.
  22. ↑ "Society of Scholars Inducts New Members". The Johns Hopkins Gazette. Johns Hopkins University. May 19, 2008. Retrieved September 10, 2026.
  23. ↑ "Molecular and Human Genetics" (PDF). Baylor College of Medicine. 2026. p. 25. Retrieved September 10, 2026.
  24. ↑ Arthur Beaudet Archived December 6, 2013, at the Wayback Machine
  25. ↑ 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.
  26. ↑ 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.
  27. ↑ 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.
  28. ↑ 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.
  29. ↑ 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.
  30. ↑ 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.
  31. ↑ 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.
  32. ↑ Vergano, Dan (11 February 2011). "DNA tests could reveal unknown proof of incest". USA Today. Retrieved 19 February 2014.
  33. ↑ 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.
  34. ↑ 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.
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