Arthur Beaudet

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.

Research

Beaudet began his research in the 1960s with studies on protein synthesis. 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. In 1988, Beaudet's laboratory published a paper regarding the mechanism by which uniparental disomy might cause certain types of human genetic disease. This paper proposed four mechanisms for uniparental disomy, each of which has since been shown to occur. In the late 1980s and early 1990s, Beaudet worked on developing a screening test for cystic fibrosis.

More recently, Beaudet has published research on the possible association between the deficiency of a carnitine biosynthesis gene and risk of autism in boys, and has contended that some of these cases of autism may be preventable through carnitine supplementation. 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. Other disorders Beaudet's lab conducts research on include Prader-Willi syndrome and Angelman syndrome. 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.