[6] Beaudet completed a residency in pediatrics at Johns Hopkins Hospital in 1969 and a postdoctoral fellowship at the National Institutes of Health two years later.
[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.
[7] In 1988, Beaudet's laboratory published a paper regarding the mechanism by which uniparental disomy might cause certain types of human genetic disease.
[10] 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.
[14][15] 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.