The Norwegian Academy of Science and Letters announced the 2022 Kavli Prize Laureates in the fields of Astrophysics, Nanoscience, and Neuroscience.
Out of 11 winners from 6 countries, the Lebanese scientist Huda Zoghbi, and three other neuroscientists, were honored for their research in Neuroscience with the prestigious 2022 Kavli Prize.
According to the Norwegian Academy of Science and Letters, the “four neuroscientists were recognized for pioneering the discoveries of genes underlying a range of serious brain disorders and establishing a blueprint for neuroscience research, diagnosis, and treatment for fragile X syndrome, spinocerebellar ataxia, Rett syndrome, and rare forms of epilepsy and autism spectrum disorder.”
Both Huda Y. Zoghbi and Harry T. Orr (USA) discovered the ATAXN1, a gene responsible for spinocerebellar ataxia 1 (SCA1), in which the neurons in the cerebellum degenerate and cause the loss of coordination.
“Orr and Zoghbi discovered that a similar repeat expansion causes SCA1 and discovered that the mutation caused proteins to misfold and clump together in cerebellar neurons, eventually leading to death,” the academy explained.
Zoghbi also uncovered the gene MECP2, which causes Rett syndrome, a rare genetic disorder present in young girls and results in motor and cognitive problems.
MECP2 is also one of the first epigenetic causes of a brain disorder, “her research found that MECP2 affects hundreds of neurons and genes and that normalizing MECP2 levels through oligonucleotide therapy reverse the gene’s effects,” noted the academy.