COPENHAGEN–Two researchers who have done groundbreaking work in discovering genetic factors in hearing and deafness will share the 2012 Brain Award, presented by the Grete Lundbeck European Brain Research Foundation. They are Christine Petit, chair of genetics and cellular physiology at College de France and head of the Genetics and Physiology of Hearing Laboratory at the Institut Pasteur in Paris, and Karen Steel, principal investigator for the Genetics of Deafness and founder of the Mouse Genetics Program at the Wellcome Trust Sanger Institute in Hinxton, UK.
Petit, a geneticist and neurobiologist, mapped to human chromosomes the first two genes responsible for hereditary congenital deafness. She also identified the causative genes for about 20 inherited forms of deafness, and, with her colleagues, figured out the roles of most of the proteins encoded by these genes. Her discoveries have had a significant impact on medical practice, with respect to diagnosis, genetic counseling and therapeutic decisions, by indicating the potential benefit of cochlear implants and hearing aids for patients.
Karen Steel’s early work with mice on cochlear function and hair cell degeneration led to identification of the gene called Tmc1, the human homologue of which is mutated in several forms of hereditary deafness. She and her colleagues went on to identify causative genes in nearly 30 forms of hearing disorder in mice, most of which have been linked to human conditions. In particular, she described the genes for key components in the transduction mechanism in hair cells, mutations of which underlie forms of Usher Syndrome. Working with a consortium of European researchers, Steel has established, catalogued, and made available to other researchers hundreds of mouse mutant lines, thereby facilitating research in several areas of neuroscience around the world.
Queen Margrethe II of Denmark will present the Brain Prize at ceremonies to be held May 9 in Copenhagen.