, pioneering neurologist at Baylor College of Medicine and Texas Children’s Hospital, has been awarded the prestigious 2022 Kavli Prize in the field of neuroscience. She is being recognized for two discoveries – first, of the gene responsible for spinocerebellar ataxia 1 (SCA1), a progressive and often deadly disease in which neurons in the cerebellum and brain stem degenerate, causing loss of balance and coordination as well as swallowing difficulties. Second, for her discoveryof the MECP2 gene responsible for Rett syndrome, a developmental disorder that strikes children, mostly girls, causing regression and disability. She is the first Kavli prize winner for Baylor and Texas Children’s.
Zoghbi is one of 11 scientists from across the globe being named a Kavli Prize Laureate. The Kavli Prize is a partnership among the Norwegian Academy of Science and Letters, the Norwegian Ministry of Education and Research and the Kavli Foundation to recognize scientists in astrophysics, nanoscience and neuroscience for breakthroughs that transform our understanding of the big, the small and the complex.
Her longtime collaborator and colleague Dr. Harry T. Orr, professor in the Department of Laboratory Medicine and Pathology at the University of Minnesota, also is receiving the same honor. He and Zoghbi independently discovered the gene known as ATAXIN1, which is responsible for SCA1. Working together, Orr and Zoghbi discovered that a repeat expansion causes SCA1 and discovered that the mutation caused proteins to misfold and accumulate, eventually leading to neuronal dysfunction and death. The Zoghbi and Orr teams have elucidated the disease mechanism and identified paths that can be pursued for therapeutic interventions.
“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,” said Zoghbi, who is also a Howard Hughes Medical Institute investigator. “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 is the founding director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s and a Distinguished Service Professor at Baylor.
“Dr. Zoghbi is a superb scientist and talented innovator. 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,” said Dr. Paul Klotman, president, CEO and executive dean of Baylor. “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.”
The journey to ATAXIN1
Zoghbi started her career as a clinical neurologist. Encountering girls with Rett syndrome inspired her to go into research. Zoghbi’s patient care and research focuses on developmental disorders. It was during her early work treating Rett syndrome, which is not inherited, that she took note of an inherited neurodegenerative disorder, spinocerebellar ataxia.
