Pioneering neurologist and Texas Children’s Research-in-Chief Dr. Huda Zoghbi has been awarded the prestigious 2022 Kavli Prize for neuroscience, making history as the first Kavli Prize recipient for both Texas Children’s and the Baylor College of Medicine.
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.
Zoghbi is one of just 11 scientists from around the world to be named a Kavli Prize Laureate this year, in recognition of two groundbreaking discoveries.
The first discovery came with long-time collaborator and University of Minnesota professor Dr. Harry T. Orr, who also received the Kavli Prize. Together, Zoghbi and Orr independently discovered the gene known as ATAXIN1, which is responsible for spinocerebellar ataxia 1 (SCA1). SCA1 is 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.
Zoghbi’s second discovery was of the MECP2 gene responsible for Rett syndrome, a developmental disorder that strikes children, mostly girls, causing regression and disability.
“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 the founding director of Texas Children’s Jan and Dan Duncan Neurological Research Institute, a Distinguished Service Professor at Baylor and 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,” she said.
Zoghbi joined Texas Children’s and Baylor in 1983 as a resident in child neurology. After encountering two patients with Rett syndrome and identifying other children with similar symptoms, she was inspired to go into research to uncover what caused the disorder.
While treating Rett syndrome, Zoghbi took note of spinocerebellar ataxia and her research with impacted families led her to Orr – who was also working with families affected by spinocerebellar ataxia. The pair shared techniques from their respective work and discovered the disease-causing gene ATAXIN1 in April 1993.
In 1999, Zoghbi and her research team were able to identify mutations in methyl-CpG-binding protein 2 gene, known as MECP2, as the root cause for Rett syndrome. The discovery of the Rett syndrome gene provided a straightforward diagnostic genetic test, allowing early and accurate diagnosis of the syndrome.
“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 President and CEO Mark A. Wallace. “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.”
For more on Zoghbi, her work and the 2022 Kavli Prize honor, click here.