Arthur Beaudet
Arthur L. Beaudet is an American physician. He is a past 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.
Arthur L. Beaudet | |
|---|---|
| Born | |
| Alma mater | College of the Holy Cross (BA) Yale University (MD) |
| 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] |
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.[5] He retired from Baylor in January 2020.
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.[6] In 1988, Beaudet's laboratory published a paper regarding the mechanism by which uniparental disomy might cause certain types of human genetic disease.[7] 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,[8] and that deletion of the snoRNAs likely contributes to the Prader-Willi phenotype.[9] 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.[10]
More recently, Beaudet has published research on the possible association between the deficiency of a carnitine biosynthesis gene and risk of autism in boys,[11] and has contended that some of these cases of autism may be preventable through carnitine supplementation.[12] 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.[13][14] 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.[15][16] He now pursues this goal at Luna Genetics.
References edit
- ^ a b Society of Scholars Inducts New Members
- ^ 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.
- ^ Researchers Toil With Genes on the Fringe of a Cure
- ^ "Arthur L. Beaudet, M.D." Institute of Medicine. Archived from the original on 19 February 2014. Retrieved 19 February 2014.
- ^ a b 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.
- ^ Arthur Beaudet December 6, 2013, at the Wayback Machine
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ Vergano, Dan (11 February 2011). "DNA tests could reveal unknown proof of incest". USA Today. Retrieved 19 February 2014.
- ^ 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.
- ^ 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.