RNA Biologist Lynne Maquat Awarded 2023 Gruber Genetics Prize

Feb. 23, 2023

Lynne E. Maquat, PhD, the founding director of the Center for RNA Biology at the University of Rochester, has been awarded the 2023 Gruber Genetics Prize for her discovery of nonsense-mediated mRNA decay or NMD in humans. The Gruber International Prize Program, administered by Yale University, honors scientists from around the world whose groundbreaking work leads to fundamental shifts in knowledge and benefits mankind.

Maquat has spent her career deciphering the many roles that RNA plays in sickness and in health, and is best known for elucidating the complexities of NMD in mammalian cells and human disease. One of the major surveillance systems in the body, NMD protects against mistakes in gene expression by targeting and eliminating deleterious mRNAs that could lead to the production of incomplete and potentially toxic proteins. Maquat’s lab also revealed that NMD helps our cells adjust to changes in development and in their environment, and more rapidly respond to certain stimuli.

“Lynne’s scientific prowess and steadfast commitment to her research is exemplary and has helped catapult the field of RNA biology to the forefront of medicine over the past decade,” said Mark B. Taubman, MD, CEO of the University of Rochester Medical Center and dean of the School of Medicine and Dentistry. “This is an exciting time, as Lynne and other scientists are putting her mechanistic findings related to NMD to use to design treatments. She is incredibly deserving of this honor.”

Maquat shares the award with Allan Jacobson, PhD, of the University of Massachusetts Chan Medical School, who was honored for his contributions in describing the mechanism of NMD in yeast. The prize will be presented to Maquat and Jacobson at the International Congress of Genetics in Melbourne, Australia, on July 19.

“This award is a powerful recognition of Lynne’s amazing ability to discover, to innovate and to advance the boundaries of scientific knowledge,” said Steve Dewhurst, PhD, vice dean for Research at the University of Rochester School of Medicine and Dentistry. “The prize speaks to the fundamental importance of NMD as a biological process, and as a driver of both homeostasis and disease. This work will influence how we treat a range of inherited diseases, as well as many types of cancer, in the future.”  

Maquat’s lab is currently using its extensive knowledge of NMD to inform the development of therapeutics for fragile X syndrome, a neurological disorder that leads to intellectual disability and severe learning problems. Her team discovered that NMD is hyperactivated in fragile X, upsetting a complex molecular balance that sustains the expression of genes and the creation of healthy proteins. The lab reported in Nature Cell Biology that tamping down NMD with compounds called small molecule inhibitors restored some of the neurological functions that are lost in fragile X cells. 

The J. Lowell Orbison Endowed Chair and Professor in the Department of Biochemistry and Biophysics at the University of Rochester School of Medicine and Dentistry, Maquat is the recipient of several other significant honors, including:

Maquat also holds appointments in Pediatrics and Oncology, and is a member of the Wilmot Cancer Institute. She is the founding director of the Graduate Women in Science program at the University of Rochester.