July 12, 2022
Chris Petkov
Congratulations to the Kavli Prize winners in neuroscience!
The prize this year, as has been the case for many years, once again goes to clinicians and animal researchers studying the nervous system.
What is the Kavli Prize?
The Kavli Prize is named after Fred Kavli (1927-2013), who was born on a small farm in Norway. Fred had a keen interest in nature and humankind’s existence. His interests led him to North America, Canada and then the United States.
As a trained physicist Fred Kavli founded a company that supplied sensors for aeronautical, automotive and industrial applications (including sensors for this author’s favorite supersonic airplane the SR-71 Blackbird). The Kavli foundation continues Fred Kavli’s legacy to “advance science for the benefit of humanity”. A bit like the Nobel Prize, the Kavli Prize is more circumscribed in focus and includes neuroscience advances and discoveries.
The committee members this year included John O’Keefe, who won the Nobel Prize in Physiology or Medicine for the discovery (with May-Britt and Edvard Moser) based on animal research in rodents of a spatial memory map in a mammalian memory structure the hippocampus. Other committee members included Angela Friederici, previously Vice President of the Max Planck Society, whose laboratory work on human communication regularly inspires discoveries with nonhuman animals on what makes us unique or very much like other species.
And the winners for 2022 are!
The 2022 Kavli Prize in neuroscience has been awarded to several individuals from the Middle East (Lebanon), Europe and United States for pioneering the discovery of genes underlying a range of serious brain disorders. This year’s laureates are Jean-Louis Mandel, Harry T. Orr, Christopher A. Walsh & Huda Y. Zoghbi.
The awardees’ research helped to identify genes underlying brain diseases and new ways for diagnosis and treatment, based on research in human and nonhuman animals.
Jean-Louis Mandel worked on Fragile X syndrome, a genetic disorder that leaves children with developmental and learning disabilities owing to a protein FMR1 that is required for normal brain development. Mandel’s fundamental science research led to development of important diagnostic tools, including laying the groundwork for identifying unstable genes in other neurological diseases.
Huda Zoghbi and Harry Orr independently discovered ATAXIN1, a gene underlying the neurodegenerative disease spinocerebellar ataxia that causes impairment in balance and coordination. The ATAXIN1 mutation is based on an abnormal repetition of a genetic sequence in the gene, the size of which is inversely correlated with the age of onset of the disease. That means that the longer the abnormal repeat in the gene the earlier an individual will be affected by the disorder. Much of this work was based on research with mice, underscoring the importance of animal research for these discoveries.
Huda Zoghbi also discovered a gene MECP2 that causes Rett syndrome, a severe motor and cognitive disorder, often in young children. The mouse genetic studies led to approaches to bring about more normal MECP2 levels to reverse the effects of Rett syndrome in the animal models of the disease.
Photo: The Huda Zoghbi laboratory. Source: Kavli Foundation.
Christopher Walsh identified genetic mutations that affect the developing brain. These discoveries came from studies of geographically isolated families that Christopher pioneered. The genetic mutations cause forms of epilepsy that cause brain seizures and Autism Spectrum Disorder, another development disorder that affects how people interact with others, communicate and learn.
The work by Huda Zoghbi on MECP2 is also relevant for ASD because this gene is one of many commonly implicated also in ASD. Animal models of these genes are now actively being pursued, including in nonhuman primate models.
Speaking of Research commends the Kavli Foundation, the 2022 Laureates in Neuroscience and their laboratory staff that worked tirelessly with human and nonhuman animals to achieve these neuroscientific advances.
This research developed over decades, often without a clear immediate application, and highlights the importance of fundamental discovery science requiring complementary human and nonhuman animal research.
Once again the Kavli Foundation and Prize “recognize outstanding research, while also promoting and celebrating science with the public–inspiring and encouraging their curiosity, support and appreciation of science”. Thank you Kavli Foundation!
Speaking of Research 