Arthur L. Beaudet is a founder and CEO of Luna Genetics. He is a past professor and chair of molecular and human genetics at

Baylor College of Medicine Baylor College of Medicine (BCM) is a medical school and research center in Houston, Texas, within the Texas Medical Center, the world's largest medical center. BCM is composed of four academic components: the School of Medicine, the Graduate Sc ...

. He was inducted into the

Institute of Medicine The National Academy of Medicine (NAM), formerly called the Institute of Medicine (IoM) until 2015, is an American nonprofit, non-governmental organization. The National Academy of Medicine is a part of the National Academies of Sciences, E ...

in 1995, the Society of Scholars in 2008Society of Scholars Inducts New Members
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National Academy of Sciences The National Academy of Sciences (NAS) is a United States nonprofit, non-governmental organization. NAS is part of the National Academies of Sciences, Engineering, and Medicine, along with the National Academy of Engineering (NAE) and the Nati ...

in 2011.

Early life and education

Beaudet was born in

Woonsocket, Rhode Island Woonsocket ( ), is a city in Providence County, Rhode Island, United States. The population was 43,240 at the 2020 United States Census, 2020 census, making it the sixth largest city in the state. Being Rhode Island's northernmost city, Woonsock ...

. He received a bachelor's degree from the

College of the Holy Cross The College of the Holy Cross is a private, Jesuit liberal arts college in Worcester, Massachusetts, about 40 miles (64 km) west of Boston. Founded in 1843, Holy Cross is the oldest Catholic college in New England and one of the oldest ...

in 1963 and received his MD from Yale Medical School in 1967. He completed a residency in pediatrics at

Johns Hopkins Hospital The Johns Hopkins Hospital (JHH) is the teaching hospital and biomedical research facility of the Johns Hopkins School of Medicine, located in Baltimore, Maryland, U.S. It was founded in 1889 using money from a bequest of over $7 million (1873 mo ...

in 1969 and a postdoctoral fellowship at the

National Institutes of Health The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late ...

two years later. After his NIH fellowship ended in 1971, Beaudet began his affiliation with Baylor. He retired from Baylor in January 2020.

Research

Beaudet began his research in the 1960s with studies on protein synthesis. In the 1970s, Beaudet et al. demonstrated mutations in cultured

somatic cell A somatic cell (from Ancient Greek σῶμα ''sôma'', meaning "body"), or vegetal cell, is any biological cell forming the body of a multicellular organism other than a gamete, germ cell, gametocyte or undifferentiated stem cell. Such cells compo ...

s; he has also conducted much research on inborn errors of metabolism, particularly

urea cycle disorder Urea, also known as carbamide, is an organic compound with chemical formula . This amide has two amino groups (–) joined by a carbonyl functional group (–C(=O)–). It is thus the simplest amide of carbamic acid. Urea serves an important r ...

s. 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. His group co-discovered that the UBE3A gene was inactivated as the cause of Angelman syndrome, and that deletion of the snoRNAs likely contributes to the Prader-Willi phenotype. 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. More recently, Beaudet has published research on the possible association between the deficiency of a

carnitine Carnitine is a quaternary ammonium compound involved in metabolism in most mammals, plants, and some bacteria. In support of energy metabolism, carnitine transports long-chain fatty acids into mitochondria to be oxidized for energy production, an ...

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 Incest ( ) is human sexual activity between family members or close relatives. This typically includes sexual activity between people in consanguinity (blood relations), and sometimes those related by affinity (marriage or stepfamily), adoption ...

without testing either parent. 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. He now pursues this goal at Luna Genetics.

References

{{DEFAULTSORT:Beaudet, Arthur Year of birth missing (living people) Living people Baylor College of Medicine faculty People from Woonsocket, Rhode Island American geneticists Yale School of Medicine alumni College of the Holy Cross alumni Members of the United States National Academy of Sciences Members of the National Academy of Medicine