Dr. Lynne E. Maquat’s discovery of nonsense-mediated mRNA decay (NMD) in humans has revolutionized our understanding of RNA biology and human disease. Her groundbreaking research has now earned her the 2023 Gruber Genetics Prize. Maquat's latest achievement follows several grants awarded to her by FRAXA Research Foundation to develop new therapies for Fragile X syndrome.
Dr. Maquat’s Career
Dr. Lynne E. Maquat, Founding Director of the Center for RNA Biology at the University of Rochester, is widely recognized for her outstanding research in RNA biology. Her research focuses on the many roles RNA plays in human health and sickness, and she is best known for discovering nonsense-mediated decay mRNA (NMD) in mammalian cells and human disease. NMD is a major surveillance system in the body that protects against mistakes in gene expression by targeting and eliminating deleterious mRNAs that could lead to the production of incomplete and potentially toxic proteins.
Dr. Maquat's research also revealed that NMD helps cells adjust to changes in development and in their environment, allowing them to more rapidly respond to certain stimuli. Her findings related to NMD are now being used to design treatments for several inherited diseases and cancer.
The Gruber Genetics Prize recognizes scientists around the world whose work leads to fundamental shifts in knowledge and benefits mankind. The prize will be presented to Dr. Maquat and 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, at the International Congress of Genetics in Melbourne, Australia, on July 19.
Nonsense-Mediated Mrna Decay and Fragile X Syndrome
Dr. Maquat's 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. Dr. Maquat's 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.
In 2021, FRAXA Research Foundation awarded Dr. Maquat her second Fragile X research grant to explore the Therapeutic Value of Inhibiting Nonsense - Mediated mRNA Decay.
FRAXA Research Foundation is proud to support innovative research aimed at transforming the lives of individuals with Fragile X syndrome and their families. We congratulate Dr. Maquat on this remarkable award!
