2022 Kavli Prize in Neuroscience Awarded to Rett Gene Discoverer
Huda Zoghbi, MD, the neurologist who discovered the MECP2 gene that causes most Rett syndrome cases, has been awarded the 2022 Kavli Prize in the field of neuroscience.
Her discovery of the Rett gene provided a straightforward genetic test that allows an early and accurate diagnosis of the rare neurodevelopmental disorder, which almost exclusively affects girls.
Zoghbi is a professor at Baylor College of Medicine, in Texas, and serves as the director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital. She also is an investigator for the Howard Hughes Medical Institute, based in Maryland.
“Dr. Zoghbi is a superb scientist and talented innovator,” Paul Klotman, MD, the president, CEO, and executive dean of Baylor, said in a press release.
“She has expanded the field of neurogenetics and continues to do so not only with her research and patient care but also through her mentorship and educational leadership at Baylor,” Klotman said, adding, “Her discoveries have helped to treat pediatric patients and now even adults as she continues to make new discoveries in her field of neurodegenerative diseases.”
Zoghbi began her career as a clinical neurologist, where she encountered girls with Rett syndrome. Those interactions inspired her to go into research for developmental disorders — which, in turn, led her to study spinocerebellar ataxia 1 (SCA1). Unlike Rett, SCA1 is an inherited neurological disorder.
Along with another scientist, Harry Orr, PhD — who would become a longtime collaborator and colleague — Zoghbi also would discover the gene responsible for SCA1. That work also was cited in her award of the Kavli Prize.
Orr, a professor at the University of Minnesota, also was recognized with the 2022 Kavli Prize, along with Jean-Louis Mandel, MD, PhD, in France, and Christopher Walsh, MD, PhD, in the U.S. Altogether, 11 scientists worldwide were named a Kavli Prize Laureate this year.
“I am deeply honored by this recognition and credit my mentors, trainees, collaborators and the incredible research environment at Baylor and Texas Children’s Hospital in helping me advance the work on SCA1 and Rett syndrome,” Zoghbi said.
“To be acknowledged alongside Harry Orr, Jean-Louis Mandel and Chris Walsh is especially meaningful as it is beautiful recognition of the power of genetics for understanding disease,” Zoghbi added.
The Kavli Prize is a partnership between the Norwegian Academy of Science and Letters, the Norwegian Ministry of Education and Research, and the Kavli Foundation. It recognizes researchers in astrophysics, nanoscience, and neuroscience for their breakthroughs.
Zoghbi’s work shed new light on the mechanisms behind Rett, beginning in 1999, when she and her team identified mutations in the MECP2 gene as the disorder’s chief cause.
Rett is characterized by cognitive, emotional, sensory, and motor problems, as well as complications with the heart, breathing, and digestion.
Her research revealed how sensitive the brain is to changes in the levels of MeCP2, the protein encoded by MECP2. Rett is caused by too little MeCP2, whereas MECP2 duplication syndrome, a progressive neurological disorder, comes from a doubling of MECP2 gene copies that results in too much MeCP2 protein.
“From the moment Dr. Zoghbi arrived at Texas Children’s Hospital, we knew immediately that she was essential to unlocking the mystery of these devastating diseases,” said Mark A. Wallace, the hospital’s president and CEO.
“Dr. Zoghbi continues to amaze us with her commitment to not only understanding what causes neurological diseases but also her dedication to lead the discovery and development of new treatments that will undeniably transform the landscape of neurological research and, ultimately, change lives for generations to come,” Wallace added.
The scientist and her team led pioneering work in understanding the role of epigenetics in neuropsychiatric disorders. Epigenetics refers to biological characteristics caused by changes in gene expression (activity) rather than the underlying genetic code.
In addition, she tested investigational therapies designed to lower MECP2 levels as a potential treatment for MECP2 duplication syndrome.
“We honor the 2022 Kavli Prize Laureates for their transformative contributions to science and society,” said Lise Øvreås, president of the Norwegian Academy of Science and Letters. “Their discoveries created entirely new fields, opened up new realms of scientific research and advanced science for the benefit of humankind.”