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Christine Petit: interdisciplinary geneticist
Perspectives
Profile Christine Petit: interdisciplinary geneticist In conversation with Christine Petit about her work, one word keeps cropping up: interdisciplinary. She speaks of it in connection with her Laboratory of Genetics and Physiology of Hearing at the Pasteur Institute in Paris. It’s one of the first things she mentions when describing EuroHear, the 5-year European Union research consortium that she coordinated. And she uses the term again when talking about the Collège de France, a body comprising 50 distinguished professors— of which she is one—whose fields of knowledge include philosophy, sociology, and history as well as the sciences. This focus on interdisciplinarity seems to have served Petit well; the Grete Lundbeck European Brain Research Foundation’s 2012 Brain Prize is just the latest addition to an already impressive list of awards. She’s particularly pleased, she says, that it should have been given to someone working, as she does, on the cochlea. The prize, she feels, marks the organ’s scientific coming of age. “The inner ear”, she jokes, “is now recognised as a part of the brain”. Her own brain began to absorb science as a child. “When I was very enthusiastic about something I worked really hard”, she recalls. And the hard work continued—as evidenced by the fact that as a student in Paris she studied medicine in parallel with biochemistry, genetics, and physics. Following her graduation in 1974 she practised medicine, but only briefly. “I realised that while medicine is interesting I didn’t want to spend all my life only seeing patients.” It was the underlying science, the genetics in particular, that fired her. And she got off to a good start, spending an inspirational year in the Laboratory of Cellular Genetics then run by the Nobel Prize winning François Jacob. In 1993, Petit was appointed as Head of the Pasteur’s Human Molecular Genetics Laboratory, the first of what was to be a succession of her own research groups. Along with Karen Steel, of the UK’s Wellcome Trust Sanger Institute, Petit received the 2012 Brain Prize for her research on the functioning of the ear, and the causes of inherited deafness. Although this is the work for which she’s best known, hearing wasn’t the sense with which she started. In the early 1990s she identified the genes responsible for Kallmann’s syndrome, an inherited disorder that includes a loss of the sense of smell. “Because I’d become interested in the sensory system”, she explains, “I looked to see which of the other senses could benefit from the genetic approach. I realised that nothing was known regarding the molecular physiology of the cochlea. No molecule with a critical role had yet been identified. I wondered why. The answer was simple. It was because the cochlea, unlike the retina, contains only a few thousand sensory cells, the hair cells. This precluded biochemical approaches to it.” For the ear, Petit reasoned, the genetic approach would be more appropriate. www.thelancet.com Vol 379 April 7, 2012
And it was. “Christine helped us gain entry to the physiology of the cochlea”, says one of her collaborators, neuroscientist Guy Richardson of Sussex University. “It was essentially a black box until the mid 1990s. It was her work that showed us how to identify the molecules that were important.” Deaf people tend to marry each other, which makes standard genetic linkage analysis difficult. Petit overcame this hurdle by studying geographically isolated families from regions as far away as Tunisia, Iran, and Lebanon. Steve Brown, Director of the UK’s Medical Research Council’s Mammalian Genetics Unit at Harwell, got to know Petit in the early 1990s. Between them they revealed a commonality between certain genes in mice and men. “She’s gone from strength to strength”, he says, “not only in understanding the genes involved in deafness, but in identifying critical protein complexes that work within the hair cell. The work has illuminated the molecular basis of hearing.” Petit’s studies have led to new animal models of deafness, the development of molecular diagnostics, improvements in genetic counselling, greater certainty in predicting the benefits of cochlear implants, and much else. “She’s dynamic, full of energy and extremely enthusiastic”, says Richardson. “She’s a driving force with loads of ideas. She makes things happen.” Brown agrees. “She’s an excellent collaborator, good at bringing people together.” Her biggest achievement in this respect has been EuroHear, a successful EU consortium of 250 scientists working in 22 laboratories across ten countries; it was launched in 2004 with Petit as Scientific Co-ordinator. “I was driven by the idea that only interdisciplinary approaches will provide us with a full understanding of the way the cochlea works”, she says. “I wanted to put together physicists with electrophysiologists, cell biologists, and geneticists.” Much of Petit’s work has been directed to an understanding of monogenic hereditary deafness in children; but presbycusis too, she says, has an inherited component. She thinks that gene therapy for some forms of deafness may eventually be possible. In the meantime, there’s the Collège de France to ensure that her life is not wholly dominated by genes. This unique institution set up in the 16th century requires its professors to give a different series of lectures each year on some innovative aspect of their discipline. The work, she says, is demanding but productive. “Last year I lectured on brain plasticity, which is absolutely critical for cochlear implants. The Collège de France gives you the freedom to explore more widely in your field.” It seems entirely appropriate that this champion of interdisciplinarity should herself be so well connected.
Geoff Watts 1291
Profile Christine Petit: interdisciplinary geneticist In conversation with Christine Petit about her work, one word keeps cropping up: interdisciplinary. She speaks of it in connection with her Laboratory of Genetics and Physiology of Hearing at the Pasteur Institute in Paris. It’s one of the first things she mentions when describing EuroHear, the 5-year European Union research consortium that she coordinated. And she uses the term again when talking about the Collège de France, a body comprising 50 distinguished professors— of which she is one—whose fields of knowledge include philosophy, sociology, and history as well as the sciences. This focus on interdisciplinarity seems to have served Petit well; the Grete Lundbeck European Brain Research Foundation’s 2012 Brain Prize is just the latest addition to an already impressive list of awards. She’s particularly pleased, she says, that it should have been given to someone working, as she does, on the cochlea. The prize, she feels, marks the organ’s scientific coming of age. “The inner ear”, she jokes, “is now recognised as a part of the brain”. Her own brain began to absorb science as a child. “When I was very enthusiastic about something I worked really hard”, she recalls. And the hard work continued—as evidenced by the fact that as a student in Paris she studied medicine in parallel with biochemistry, genetics, and physics. Following her graduation in 1974 she practised medicine, but only briefly. “I realised that while medicine is interesting I didn’t want to spend all my life only seeing patients.” It was the underlying science, the genetics in particular, that fired her. And she got off to a good start, spending an inspirational year in the Laboratory of Cellular Genetics then run by the Nobel Prize winning François Jacob. In 1993, Petit was appointed as Head of the Pasteur’s Human Molecular Genetics Laboratory, the first of what was to be a succession of her own research groups. Along with Karen Steel, of the UK’s Wellcome Trust Sanger Institute, Petit received the 2012 Brain Prize for her research on the functioning of the ear, and the causes of inherited deafness. Although this is the work for which she’s best known, hearing wasn’t the sense with which she started. In the early 1990s she identified the genes responsible for Kallmann’s syndrome, an inherited disorder that includes a loss of the sense of smell. “Because I’d become interested in the sensory system”, she explains, “I looked to see which of the other senses could benefit from the genetic approach. I realised that nothing was known regarding the molecular physiology of the cochlea. No molecule with a critical role had yet been identified. I wondered why. The answer was simple. It was because the cochlea, unlike the retina, contains only a few thousand sensory cells, the hair cells. This precluded biochemical approaches to it.” For the ear, Petit reasoned, the genetic approach would be more appropriate. www.thelancet.com Vol 379 April 7, 2012
And it was. “Christine helped us gain entry to the physiology of the cochlea”, says one of her collaborators, neuroscientist Guy Richardson of Sussex University. “It was essentially a black box until the mid 1990s. It was her work that showed us how to identify the molecules that were important.” Deaf people tend to marry each other, which makes standard genetic linkage analysis difficult. Petit overcame this hurdle by studying geographically isolated families from regions as far away as Tunisia, Iran, and Lebanon. Steve Brown, Director of the UK’s Medical Research Council’s Mammalian Genetics Unit at Harwell, got to know Petit in the early 1990s. Between them they revealed a commonality between certain genes in mice and men. “She’s gone from strength to strength”, he says, “not only in understanding the genes involved in deafness, but in identifying critical protein complexes that work within the hair cell. The work has illuminated the molecular basis of hearing.” Petit’s studies have led to new animal models of deafness, the development of molecular diagnostics, improvements in genetic counselling, greater certainty in predicting the benefits of cochlear implants, and much else. “She’s dynamic, full of energy and extremely enthusiastic”, says Richardson. “She’s a driving force with loads of ideas. She makes things happen.” Brown agrees. “She’s an excellent collaborator, good at bringing people together.” Her biggest achievement in this respect has been EuroHear, a successful EU consortium of 250 scientists working in 22 laboratories across ten countries; it was launched in 2004 with Petit as Scientific Co-ordinator. “I was driven by the idea that only interdisciplinary approaches will provide us with a full understanding of the way the cochlea works”, she says. “I wanted to put together physicists with electrophysiologists, cell biologists, and geneticists.” Much of Petit’s work has been directed to an understanding of monogenic hereditary deafness in children; but presbycusis too, she says, has an inherited component. She thinks that gene therapy for some forms of deafness may eventually be possible. In the meantime, there’s the Collège de France to ensure that her life is not wholly dominated by genes. This unique institution set up in the 16th century requires its professors to give a different series of lectures each year on some innovative aspect of their discipline. The work, she says, is demanding but productive. “Last year I lectured on brain plasticity, which is absolutely critical for cochlear implants. The Collège de France gives you the freedom to explore more widely in your field.” It seems entirely appropriate that this champion of interdisciplinarity should herself be so well connected.
Geoff Watts 1291