Marisa Bartolomei is a developmental geneticist recognized for her work on genomic imprinting and epigenetic gene regulation using mouse models. Bartolomei was born in Bayshore, NY and grew up in the Washington DC suburbs. She graduated from the University of Maryland with a BS degree in biochemistry and obtained her Ph.D. at the Johns Hopkins University School of Medicine in biochemistry, cellular and molecular biology. She was a postdoctoral fellow in the laboratory of Dr. Shirley Tilghman at Princeton University when she began her studies on genomic imprinting. In 1993, she joined the faculty of the Cell and Developmental Biology Department at the University of Pennsylvania Perelman School of Medicine. Bartolomei received the Society for Women’s Health Research Medtronics Prize for Contributions to Women’s Health in 2006 and the 2017 Genetics Society Medal from the UK Genetics Society. She is a Fellow of the American Association for the Advancement of Science and was elected Member-At-Large of the Section on Biological Sciences. She is a member of the National Academy of Sciences.

Research Interests

Marisa Bartolomei's laboratory is interested in genomic imprinting and epigenetic gene regulation in mammalian development. Genomic imprinting, which affects a subset of genes in mammals, uses epigenetic modifications to effect the unequal expression of the maternal and paternal alleles of a gene. Consequently, the maternal and paternal genomes are functionally non-equivalent and both are required for normal development. To elucidate imprinted gene regulation, the Bartolomei laboratory identified cis-acting sequences and trans-acting factors, including DNA methylation machinery and CTCF, that confer, maintain and reprogram allele-specific epigenetic modifications in the germline and early embryo. Human imprinting disorders, including Silver-Russell and Beckwith-Wiedemann syndromes, result from deletion or epigenetic dysregulation of imprinted genes. The Bartolomei lab has generated humanized models of human imprinting syndromes to investigate these disorders. Additionally, the Bartolomei laboratory employs mouse models of environmental exposures and assisted reproductive technologies (ART). ART is associated with increased incidence of human imprinting disorders, which occurs through DNA methylation defects. Exposure to the commonly used compounds bisphenol A and phthalates is associated with a variety of adverse outcomes, such as obesity, diabetes and metabolic disorders. The mouse models, which mimic many human outcomes, are employed to investigate phenotypes and mechanisms leading to these phenotypes.

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Primary Section

Section 61: Animal, Nutritional, and Applied Microbial Sciences

Secondary Section

Section 26: Genetics