Arthur Beaudet

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Arthur L. Beaudet
Born
MD)
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]

Arthur L. Beaudet is an American physician. He is a past professor and chair of molecular and human genetics at

Institute of Medicine in 1995,[4] the Society of Scholars in 2008[1] and into the National Academy of Sciences
in 2011.

Early life and education

Beaudet was born in

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

Beaudet began his research in the 1960s with studies on protein synthesis.

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

  1. ^ a b Society of Scholars Inducts New Members
  2. ^
    PMID 18610510
    .
  3. ^ Researchers Toil With Genes on the Fringe of a Cure
  4. Institute of Medicine. Archived from the original
    on 19 February 2014. Retrieved 19 February 2014.
  5. ^
    PMID 12394354
    .
  6. ^ Arthur Beaudet Archived December 6, 2013, at the Wayback Machine
  7. PMID 2893543
    .
  8. S2CID 22923869
    .
  9. PMID 18500341
    .
  10. PMID 25470045
    .
  11. PMID 22566635
    .
  12. PMID 28703319
    .
  13. S2CID 31316085
    .
  14. ^ Vergano, Dan (11 February 2011). "DNA tests could reveal unknown proof of incest". USA Today. Retrieved 19 February 2014.
  15. S2CID 43511221
    .
  16. PMID 31785788
    .
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