Two researchers with strong ESHG connections are among the four winners of this year’s Kavli Prize for neuroscience. The Kavli Prize is given by the Norwegian Academy of Science and Letters in recognition of innovative scientific research.

Jean-Louis Mandel, ESHG President from 1999-2000, is recognised for his work on Fragile X syndrome, which has led to improved diagnostic tools and become a model for other neurological diseases. The unstable repeat expansions that he discovered n Fragile X are now known as the mechanism behind more than 50 genetic disorders.

Huda Zoghbi gave the Mendel Award Lecture at the 2013 ESHG annual conference. She is honoured for her discovery, jointly with Harry Orr, another Zavli prizewinner, of ATXN1, the gene whose mutations are responsible for spinocerebellar ataxia1. She also discovered the gene MECP2, whose abnormal levels cause Rett syndrome.

The fourth 2022 prize-winner, Christopher Walsh, is honoured for his discovery of more than three dozen genes implicated in neurological disease and how they affect the development of a child’s brain.

“Understanding inherited brain disorders has been made possible by the novel genetic approaches developed by this year’s laureates,” Kristine Walhovd, chair of the Kavli Prize Neuroscience Committee, said at the award ceremony in Oslo. “Together, these four scientists uncovered the genetic basis of multiple brain disorders and in doing so, paved the way to the development of diagnostic tools and improved care for those affected.”