2nd Elaine Redding Brinster Prize Awarded for Discovery of Genetic Basis for Pair of Neurological Diseases

PHILADELPHIA— For her work pinpointing the underlying, genetic causes of a pair of devastating neurological diseases, the Institute for Regenerative Medicine at the University of Pennsylvania awarded Huda Zoghbi, MD, the second Elaine Redding Brinster Prize in Science or Medicine. Zoghbi’s research advanced the field’s conceptual understanding of how gene expression can influence neurological health, even in non-inherited disorders.

Zoghbi began her career as a clinician before diving into research to understand the causes of some of the conditions she saw affecting her patients. Through a longstanding collaboration with Harry Orr, PhD, at the University of Minnesota, Zoghbi discovered that a lengthening of the ATXN1 gene causes spinocerebellar ataxia 1, a progressive disorder characterized by issues with balance and movement.

In a different line of work, Zoghbi was pursuing the genetic basis of Rett syndrome, a rare and sporadic neurological and developmental disorder that affects the way the brain functions after birth, causing a progressive loss of motor skills and language, primarily in female patients. In 1999, her research team identified mutations in methyl-CpG-binding protein 2 gene, known as MECP2, as the root cause for Rett syndrome. Further work showed that the brain is sensitive to changes in the levels of MECP2 expression and that duplication of the gene can cause other neurological issues.

"Dr. Zoghbi’s interests in the basis for neurological disorders were sparked by her initial observations in the clinic. It was an exceptional path from there to revealing how mutations in a methyl-DNA binding protein cause Rett's syndrome and how expansion of DNA repeat sequences cause spinocereballar ataxia 1,” said Ken Zaret, PhD, director of the Institute for Regenerative Medicine and the Joseph Leidy Professor of Cell and Developmental Biology. “We are thrilled that Dr. Zoghbi is the second awardee of the Elaine Redding Brinster Prize.”

The prize, supported by an endowment from the children of Elaine Redding Brinster, is awarded annually to a researcher whose singular discovery has made a unique impact on biomedicine. Each winner receives $100,000, a commemorative medal, and an invitation to present a lecture at Penn.

Zoghbi will accept the prize March 15, 2023, as part of the day-long Ralph L. Brinster Symposium. The symposium will feature several eminent speakers from across the biomedical sciences, including Janet Rossant, PhD, of the University of Toronto, Lynne Maquat, PhD, of the University of Rochester, Karl Deisseroth, MD, PhD, of Stanford University, and Lorenz Studer, MD, of Memorial-Sloan Kettering.

"I am deeply honored and humbled to be recognized with the Elaine Redding Brinster Prize for research that was inspired by my patients. For me, it is also very special to be part of the Ralph Brinster Symposium as my research benefited immensely from technologies developed by Professor Brinster,” said Zoghbi, the current and founding director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s, a Distinguished Service Professor at Baylor College of Medicine and .an investigator with Howard Hughes Medical Institute.

Previously, Zoghbi won several prestigious awards, including the Kavli Prize for Neuroscience, the Breakthrough Prize, the Gairdner International Award, and the March of Dimes Prize in Developmental Biology. Zogbhi is a member of the U.S. National Academy of Medicine and National Academy of Sciences.

In the Elaine Redding Brinster Prize’s first year, molecular biologist C. David Allis, PhD, was recognized for his work that sparked the field of epigenetics.

The Penn Institute for Regenerative Medicine is dedicated to researching cells and tissues and turning the knowledge gained into new diagnostic and therapeutic techniques and tools. A member of the International Society for Stem Cell Research’s (ISSCR) Circle of Stem Cell Institute and Center Directors, the institute features faculty from five schools across the University of Pennsylvania and includes representation from the Children’s Hospital of Philadelphia and the Wistar Institute.