HOUSTON, June 1, 2022 — The renowned 2022 Kavli Prize in neuroscience has been given to Dr. Huda Zoghbi, a pioneering neurologist from Baylor College of Medicine and Texas Children’s Hospital. She is being honoured for two discoveries: the first is the gene that causes spinocerebellar ataxia 1 (SCA1), a degenerative and frequently fatal condition in which neurons in the cerebellum and brain stem deteriorate, causing loss of balance and coordination, as well as swallowing problems. Second, for discovering the MECP2 gene, which causes Rett syndrome, a developmental condition that affects predominantly girls and causes regression and handicap. She is Baylor and Texas Children’s first Kavli prize recipient.
Zoghbi is one of 11 scientists chosen Kavli Prize Laureates from around the world. The Kavli Prize is a collaboration between the Norwegian Academy of Science and Letters, the Norwegian Ministry of Education and Research, and the Kavli Foundation to honour scientists in astrophysics, nanoscience, and neuroscience who have made breakthroughs that have changed our understanding of the big, small, and complex. Her longstanding partner and colleague, Dr. Harry T. Orr, professor at the University of Minnesota’s Department of Laboratory Medicine and Pathology, is also being honoured. He and Zoghbi separately found the ATAXIN1 gene, which is involved with SCA1. Orr and Zoghbi collaborated to find that SCA1 is caused by a repeat expansion, and that the mutation causes proteins to misfold and accumulate, eventually leading to neuronal malfunction and death. The Zoghbi and Orr teams have revealed the disease process and proposed therapeutic strategies that can be explored.