publication date: Mar 14, 2012
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author/source: Grete Lundbeck European Brain Research Foundation
The
Grete Lundbeck European Brain Research Foundation announced today that
The Brain Prize 2012 is jointly awarded to Christine Petit and Karen
Steel ‘for their unique, world-leading
contributions to our understanding of the genetic regulation of the development
and functioning of the ear, and for elucidating the causes of many of the
hundreds of inherited forms of deafness'.
Inherited
conditions render one in a thousand children deaf at birth, and cause as many
again to become deaf before maturity, leading to delay or failure in the
acquisition of speech, and frequently to disadvantages in communication and
learning. Genetic anomalies also contribute to many age-related and progressive
forms of hearing loss. About one-tenth of the population in the developed world
suffers from significant hearing impairment, which has an enormous impact on
individuals and on society.
Karen
Steel and Christine Petit are at the forefront of efforts to understand the
molecular mechanisms of the specialised hair cells in the inner ear, whose
extraordinary sensitivity to mechanical stimulation underpins the senses of
hearing and balance. These two researchers, at the peak of their productivity
and influence, are international leaders in the field of hereditary deafness.
Each
has brought special skill to this challenging area of research. Their
approaches have been complementary. Karen Steel has worked upwards, employing
elegant and exhaustive study of mutations in mice and their functional
consequences to illuminate human disorders. Christine Petit has started with
the genetic analysis of patients, subsequently investigating the role of the
identified genes in animal model systems.
Professor
Colin Blakemore, Oxford University, Chairman of the Selection Committee
said: ‘
Together, the work of these two Europeans scientists illustrates the
value and power of interdisciplinary approaches in neuroscience, and the way in
which cutting-edge fundamental research is needed to understand complex
clinical problems and to accelerate benefit for patients'.......'We are
delighted that The Brain Prize for the best of European neuroscience goes, in
its second year, to two women scientists. We are sure that the award will be
applauded by female researchers around the world, and by all those who are
concerned that young women are given every encouragement to consider careers in
science'
The prize lectures and award ceremony will take place 9
th May in
Copenhagen, Denmark. The Prize will be presented by Her Majesty the Queen.
Bios:
Christine Petit, Professor at
College de France, holding the Chair of Genetics and Cellular Physiology, head
of the Genetics and Physiology of Hearing laboratory at the Institut Pasteur in
Paris also affiliated to INSERM, is a geneticist and a neurobiologist.
She conceived and pioneered the genetic strategy to assess the molecular
mechanisms underlying the cochlear differentiation and physiology. She
developed this genetic approach in humans, by succeeding to overcome the
difficulties specific to linkage analysis for deafness. She thereby mapped to
human chromosomes the first two genes responsible for hereditary congenital
deafness. She identified the causative genes for about 20 inherited forms of
deafness, initially by an innovative candidate gene approach. Together with her
colleagues, she also unraveled the roles of most of the proteins encoded by
these genes, namely in the sensory hair cells, their stimulating gel, and the
supporting cells, by multidisciplinary studies of engineered mouse models. Her
work shed light on the functions mediated through various fibrous links within
the hair bundle, the mechanoreceptive structure to sound. Her work on Usher
syndrome (deafness, blindness), demonstrated that all Usher 1 proteins as well
as all Usher 2 proteins form protein networks enabling the links they form to
shape the hair bundle. She also identified some Usher1 proteins as components
of the mechanotransduction machinery. Christine Petit's discoveries have
already 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, Professor and
Principal Investigator for the Genetics of Deafness and founder of the Mouse
Genetics Programme at the Wellcome Trust Sanger Institute, Hinxton, near
Cambridge, UK, has pioneered the use of mouse models, starting with her
painstaking description of the characteristics of mutant mice with disorders of
balance and hearing. Her early work on cochlear function and hair cell
degeneration in the mutant
deafness mouse 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
myosin-7a
and
cadherin-23, which are key components in the transduction mechanism
in hair cells, and mutations of which underlie forms of Usher Syndrome. Karen
Steel is internationally recognized for her generous and altruistic approach to
science. Working with a consortium of European researchers, she has
established, catalogued and made freely available to other researchers several
hundred mouse mutant lines, which have facilitated research in several areas of
neuroscience around the world.
For further information visit
www.thebrainprize.org
About the Brain Prize
The Brain Prize - € 1 million is awarded by Grete Lundbeck European Brain Research
Foundation, a charitable, non-profit organization.
The Brain Prize is a personal prize awarded to one or
more scientists who have distinguished themselves by an outstanding
contribution to European neuroscience.