Biography

Dr. Richard Axel is a university professor at Columbia University, and an investigator at the Howard Hughes Medical Institute at the College of Physicians and Surgeons, Columbia University. In early work, Axel and his colleagues developed gene-transfer techniques that permitted the introduction of virtually any gene into any cell, allowing the analysis of gene function in vivo. These experiments in cell transformation led to the isolation and functional analysis of the gene for the T-cell surface protein, CD4, the cellular receptor for HIV.

Richard Axel then began to apply the techniques of molecular biology to problems in neurobiology. He identified the peptide genes responsible for eliciting an innate behavior in a marine snail, aplysia. Molecular analysis of these genes suggests mechanisms as to how diverse behavioral patterns may be encoded in the genetic material and inherited from parent to offspring. More recently, he has largely been concerned with the molecular logic of olfactory perception. This work has provided insight into how the recognition of odors is translated into an internal representation of sensory quality in the brain.

Abstract

Our perception of the world is shaped by the nature of our sense organs and the way in which sensory cells are wired into the brain. Perception is therefore governed by the genes that mold our sensory systems, and I will discuss how this may be accomplished for smell. Odor recognition is accommodated by over a thousand genes encoding odorant receptors. The isolation of these genes has allowed us to identify an olfactory sensory map in the brain that provides an internal representation of odor in the external world. The elucidation of an olfactory sensory map leaves us with a different order of problem: How are spatially defined bits of electrical information in the brain decoded to allow the perception of an olfactory image? We are therefore left with the problem of the ghost in the machine: Who in the brain reads the sensory map to elicit appropriate thoughts and behaviors?

Biography

David H. Cohen is a professor of biological sciences and psychiatry at Columbia University. He has published about a hundred scientific articles, chapters, and abstracts; chaired the Society for Neuroscience and the Association of American Medical Colleges; and served as associate editor of two major journals.

Dr. Cohen served as vice president for Arts and Sciences and dean of the faculty at Columbia from 1995 to 2003. In this role, he oversaw 29 departments of instruction in the humanities and physical and social sciences, as well as Columbia College, the Graduate School of Arts and Sciences, the School of International and Public Affairs, the School of General Studies, Continuing Education, and the School of the Arts.

Cohen earned his bachelor's degree from Harvard and his PhD from the University of California at Berkeley. He spent the next year as a National Science Foundation postdoctoral fellow at UCLA, and then began a teaching career that led him from Western Reserve to the chair of neurobiology at SUNY, Stony Brook, and then to the chair of neuroscience at the University of Virginia. Before coming to Columbia, he was provost at Northwestern University, and prior to that, vice president for research and dean of the graduate school there.

Biography

Gerald Fischbach, MD, is executive vice president for Health and Biomedical Sciences and dean of the Faculty of Medicine at the College of Physicians and Surgeons of Columbia University. Dr. Fischbach received his MD degree in 1965 from Cornell University Medical School. He began his research career at the National Institutes of Health (NIH), serving from 1966 to 1973. He subsequently served on the faculty of Harvard Medical School, first as associate professor of pharmacology from 1973 to 1978 and then as professor until 1981. From 1981 to 1990, Dr. Fischbach was the Edison Professor of Neurobiology and head of the Department of Anatomy and Neurobiology at Washington University School of Medicine. In 1990, he returned to Harvard where he was the Nathan Marsh Pusey Professor of Neurobiology and chairman of the neurobiology departments of Harvard and Massachusetts General Hospital until 1998. He served as director of the National Institute of Neurological Disorders and Stroke, NIH, from 1998 to 2001. Dr. Fischbach, a past-president of the Society of Neuroscience, is a member of the NAS and IOM, and he now serves on several medical and scientific advisory boards.

Throughout his career, Dr. Fischbach has studied the formation and maintenance of synapses. He has been particularly interested in the neuromuscular junction. Beginning in the 1970s, Dr. Fischbach embarked on a search for molecules released by motor neurons that regulate the number of acetylcholine receptors on muscle cells. Dr. Fischbach's work culminated in 1993 with the purification and cloning of a protein called ARIA (for acetylcholine receptor-inducing activity) that stimulates synthesis of acetylcholine receptors. This molecule is a member of a family of trophic factors called neuregulins. Dr. Fischbach was key in demonstrating that synaptic development relies upon biochemical mechanisms that are broadly similar to those that underlie the action of nerve growth factor and other well-known trophic molecules. His current focus is on trophic factors that influence synaptic efficacy and nerve cell survival.

Abstract

The vertebrate neuromuscular junction is a "secure" synapse in that every impulse in a motor axon leads to an impulse in the innervated muscle fiber when the synapse is activated at low frequency. However, neuromuscular transmission exhibits considerable "plasticity" in that modulation of presynaptic transmitter release or modulation of postsynaptic chemosensitivity may have profound effects on the fidelity of transmission when the synapse is activated at physiological rates. There has been a remarkable interplay between studies of myasthenia gravis and other diseases affecting the neuromuscular junction and molecular studies of normal junctions. Lessons learned in one area have provided insights in the other. The neuromuscular junction is the prototypic chemical synapse, and we can expect the type of "bootstrapping" or interplay between pathobiology and neurobiology at less accessible, more complex interneuronal synapses in the central nervous system.

Biography

Thomas Jessell is professor of biochemistry and molecular biophysics, and a member of the Center for Neurobiology and Behavior at Columbia University. Dr. Jessell received his PhD from Cambridge University, England. He was a postdoctoral fellow in Gerald Fischbach's laboratory at Harvard Medical School, a Locke Research Fellow of the Royal Society and an assistant professor in the Department of Neurobiology at Harvard Medical School. In 1985 he moved to Columbia University and also became an investigator of the Howard Hughes Medical Institute.

Dr. Jessell's research has focused on the early wiring of the vertebrate central nervous system. His studies have identified the strategies and molecules involved in assembling functional neural circuits, and have opened the way for novel methods for reconstruction of circuits that have been damaged through trauma or neurodegenerative disease.

Dr. Jessell is a fellow of the Royal Society of London, a foreign associate of the U.S. National Academy of Sciences, a member of the Institute of Medicine, and a fellow of the American Academy of Arts and Sciences. He serves on the editorial boards of several journals and is an editor of the textbook Principles of Neural Science, together with Eric Kandel and James Schwartz of Columbia University.

Abstract

Neurons in the brain possess distinct identities that permit them to form selective neural circuits, and the precision with which such circuits are assembled during development helps to determine an organism's intrinsic behavioral repertoire. Many details of neural circuit assembly have emerged from the study of a simple reflex circuit found in the spinal cord, in which sensory information from the periphery is transformed into motor commands through a series of synaptic connections that are well understood anatomically and physiologically. This talk will discuss the developmental logic of selective sensory-motor circuit formation, with the aim of extracting more general principles of brain connectivity. Understanding the link between neuronal identity, circuit formation, and behavior is also beginning to provide insights into how defects in circuit assembly contribute to certain neurological and psychiatric disorders.

Biography

Eric R. Kandel is a university professor at Columbia and a senior investigator at the Howard Hughes Medical Institute. A graduate of Harvard College and New York University School of Medicine, Kandel trained in neurobiology at the NIH and in psychiatry at Harvard Medical School. He joined the faculty of the College of Physician and Surgeons at Columbia University in 1974 as the founding director of the Center for Neurobiology and Behavior.

Eric Kandel's research has been concerned with the molecular mechanisms of memory storage in aplysia and mice. Kandel has received 13 honorary degrees, is a member of the U.S. National Academy of Sciences as well as the National Science Academies of German and France. He has been recognized with the Albert Lasker Award, the Heineken Award of the Netherlands, the Gairdner Award of Canada, the Wolf Prize of Israel, the National Medal of Science USA and the Nobel Prize for Physiology or Medicine in 2000.

Abstract

I will consider a core signaling pathway, which emerged from studies of aplysia and mice whereby a transient short-term memory is converted into a stable, self-maintained, long-term memory. I will then consider cellular mechanisms in the mouse whereby a long-term explicit memory for space is perpetuated by means of selective attention during acquisition. Finally I will consider a novel molecular candidate mechanism for self-sustaining perpetuation of memory storage.

Biography

Nancy Kanwisher is professor in the Department of Brain and Cognitive Sciences at MIT, and investigator at the McGovern Institute for Brain Research. She received her BS in 1980 and her PhD in 1986, both from MIT. After teaching for several years at UCLA and then at Harvard, she returned to MIT in 1997. Kanwisher's research concerns the cognitive and neural mechanisms underlying visual experience, using behavioral methods, functional magnetic resonance imaging (fMRI), and magnetoencephalography (MEG). Her lab has contributed to the identification and characterization of four new regions in the human brain involved in visual perceiving faces, places, bodies, and objects. She received a MacArthur Foundation Fellowship in Peace and International Security in 1986, a Troland Research Award from the National Academy of Sciences in 1999, and a MacVicar Faculty Fellow Award from MIT in 2002.

Abstract

We humans are highly visual animals, devoting about half our cortex to just seeing the world around us. Research using functional brain imaging has for the first time started to provide a detailed map of the functional architecture of the human visual cortex. I will describe work from my lab that has characterized several cortical regions with surprisingly specific functions, such as the recognition of faces, places, and bodies. Ongoing work is attempting to understand the precise information extracted in each of these areas, the role each areas plays in visual behavior, and the origin of these highly specialized cortical regions in development and experience.

Biography

Born in 1956 in the American Midwest, Christoff Koch grew up in Holland, Germany, Canada, and Morocco, where he graduated from the Lycè Descartes in 1974. He studied physics and philosophy at the University of Tübingen in Germany and was awarded his PhD in biophysics in 1982.

After four years at the Massachusetts Institute of Technology, Dr. Koch joined the faculty at the California Institute of Technology in 1986, where he is now the Lois and Victor Troendle Professor of Cognitive and Behavioral Biology. He lives with his family in Pasadena, and loves to run and to climb.

The author of close to three hundred scientific papers and journal articles, and several books, Dr. Koch studies the biophysics of computation, and the neuronal basis of visual perception, attention, and consciousness. Together with his long-time collaborator, Francis Crick, he has pioneered the scientific study of consciousness. His latest book is The Quest for Consciousness: A Neurobiological Approach. For more information, see www.klab.caltech.edu.

Abstract

Much excitement has been generated in the scientific community by electrophysiological techniques of recording from individual nerve cells in behaving monkeys and other animals that, combined with functional brain imaging in humans, enables us to study the neuronal basis of subjective, conscious experience. Researchers are interested in discovering the neuronal correlates of consciousness (NCC). This would be an enormous step in understanding the age-old mind-body problem: How can a physical system have subjective feelings?

I will outline the two-pronged research program we are following by studying visual consciousness in humans using psychophysics, functional brain imaging and electrophysiological investigations at the single neuron level and contingency awareness in rodents in certain forms of aversive Pavlovian conditioning using behavioral techniques in combination with pharmacological and genetic interventions. For more information, see www.questforconsciousness.com

Biography

Roderick MacKinnon received an undergraduate degree from Brandeis University, a medical degree from Tufts University, and training in internal medicine at Beth Israel Hospital, Harvard Medical School. He then began his scientific career studying the biophysics of potassium channels with Christopher Miller at Brandeis University from 1986 to 1989. He joined the faculty at Harvard Medical School as assistant professor of physiology (1989), associate professor of neurobiology (1992) and professor of neurobiology (1995). During this period he and his laboratory characterized potassium channels—their subunit stoichiometry, pore-lining amino acids, and components of their gates—through biochemical and functional analysis. He then moved to Rockefeller University in 1996, where he solved the structure of potassium channels and bacterial ClC chloride channel homologs.

He is currently a professor in the Laboratory of Molecular Neurobiology and Biophysics at Rockefeller University and an investigator of the Howard Hughes Medical Institute. He is the recipient of numerous scientific awards, including the 1999 Albert Lasker Basic Medical Research Award, the 2000 Lewis S. Rosenstiel Award for Distinguished Work in Basic Medical Research, the 2001 Gairdner Foundation International Award, the 2003 Louisa Gross Horwitz Prize, and the 2003 Nobel Prize for Chemistry. He is a member of the U.S. National Academy of Sciences.

Abstract

Ion channels are responsible for generating electrical impulses and mediating numerous cellular processes. To accomplish their tasks in biology, ion channels must exhibit two basic properties, selectivity and gating. Selectivity refers to the property of high fidelity discrimination among similar ions, while gating refers to protein conformational changes that open a channel in response to specific stimuli such as ligand binding or membrane voltage. Recent developments on the molecular principles of selectivity and gating in potassium channels will be presented.

Biography

Richard Mayeux is the Gertrude H. Sergievsky Professor of Neurology, Psychiatry and Epidemiology at Columbia University. He is also the director of the Gertrude H. Sergievsky Center, and the codirector of the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, both at Columbia University Medical Center. He has authored over 230 papers, chapters, and books on the epidemiology and genetics of Alzheimer's disease and other degenerative diseases of the aging brain. In 1999, he was elected to the Association of American Physicians and the American Epidemiological Society. Dr. Mayeux received the Leadership and Excellence in Alzheimer's Disease Award from the National Institute of Aging and was also elected to the Institute of Medicine of the National Academies of Science. Dr. Mayeux has led a multidisciplinary, population-based investigation of Alzheimer's disease and other dementias known as the Washington Heights–Inwood Community Aging Project.

Biography

Bill Newsome is an investigator at the Howard Hughes Medical Institute and professor of neurobiology at the Stanford University School of Medicine. He received a BS degree, summa cum laude, in physics from Stetson University and a PhD in biology from the California Institute of Technology. Dr. Newsome served on the faculty of the Department of Neurobiology and Behavior at SUNY, Stony Brook, before moving to Stanford in 1988. Dr. Newsome is a leading investigator in the fields of sensory and cognitive neuroscience. He has made fundamental contributions to our understanding of the neural mechanisms underlying visual perception and simple forms of decision making.

Among his honors are the Rank Prize in Optoelectronics, the Spencer Award for highly original contributions to research in neurobiology from the College of Physicians and Surgeons of Columbia University, and the Distinguished Scientific Contribution Award of the American Psychological Association. He recently delivered the 13th annual Marr Lecture at the University of Cambridge and the King Solomon Lectures in Mechanisms of Animal Behavior at Hebrew University in Jerusalem. In 2000, he was elected to membership in the National Academy of Sciences.

Abstract

In the study of decision-making, students of perception traditionally emphasize the effects of sensory stimuli on the outcome of the decision process. Psychologists and economists, however, have long known that decision-making is influenced not only by the sensory stimulus, but also by an organism's prior experience or beliefs concerning the "value" of the alternative choices, expressed in terms of likely positive or adverse consequences. Brain circuitry that mediates decision-making must presumably reflect both sensory and "value" influences, and we have recently been able to demonstrate both effects at the behavioral and neurophysiological levels.

To measure "value" objectively, we have developed a probability matching paradigm for rhesus monkeys in which the animal's valuation is revealed through the proportion of choices allocated to alternative behaviors. In neurophysiological recordings, we have found that neurons in the lateral intraparietal area (LIP) of the cerebral-cortex code value, although LIP is unlikely to be the site where value is originally computed. Our results to date suggest that signals from multiple sources within the brain, including representations of sensory stimuli as well as internal valuation, converge in areas such as LIP to render simple behavioral decisions.

Biography

Judith Rapoport received her undergraduate degree in psychology from Swathmore College and her MD degree from Harvard University. Dr. Rapoport was named chief of child psychiatry at the National Institute of Mental Health in 1976 and has since worked for NIH. She also worked as clinical associate professor of pediatrics and psychiatry from 1982 to 1985.

Dr. Rapoport's research interests include obsessive-compulsive disorder, childhood schizophrenia, diagnosis in child psychiatry, biological aspects of child psychiatry, pediatric psychopharmacology, and brain imaging in developmental disorders, brain and language. She has written extensively on her findings and is on the editorial board of 14 major journals on pediatrics, psychiatry, and psychopharmacology. Among honors she has received are the APA Prize in Psychiatry, 1992, Institute of Medicine, 1993, NIH Mider Lecture, 1993, and the HHS Distinguished Service Award, 1993.

Abstract

The availability of noninvasive brain imaging suitable for pediatric populations, together with genetic markers permits new answers to fundamental questions of developmental psychopathology. A series of prospective studies will be presented to show that chronic and disabling child psychiatric conditions have diagnostically specific abnormalities in brain development. These show consistent relationship to age, clinical follow-up status, and genetic risk.

Biography

Joanna Rubinstein is the senior associate dean for institutional and global initiatives at Columbia University Medical Center (CUMC). She is responsible for developing financial support for basic and translational research from foundation, philanthropy, and through strategic partnerships between CUMC and the biotech and pharmaceutical industries. In addition, she oversees graduate and postdoctoral programs. On the international front, she develops collaborations with foreign academic institutions and research-funding organizations, and has established the Office for Global Health Training and Education.

Rubinstein came to Columbia University in 2002 from the Karolinska Institute (KI) in Stockholm, Sweden, where she was director for research and postgraduate education from 1999 to 2002. She also served as Sweden's representative to a European Commission committee and was a director at Sweden's Medical Research Council (1997–99).

Rubinstein holds a DDS and a PhD in cell biology from KI. As an associate professor at KI (1990–2001), her areas of research included regulation of chondro-, osteo-, and odontogenesis, analysis of the effects of heavy metals on gene expression, and analytical electron microscopy.

Biography

Professor Sir Michael Rutter is professor of developmental psychopathology at the Institute of Psychiatry, Kings College, London. He was consultant psychiatrist at the Maudsley Hospital from 1966 to 1998, and professor of child psychiatry at the Institute of Psychiatry from 1973 to 1998. He set up the Medical Research Council Child Psychiatry Research Unit in 1984 and the Social, Genetic, and Developmental Psychiatry Research Centre ten years later, being honorary director of both until October 1998.

His research has included the genetics of autism, study of both school and environmental influences on children's behavior; he also has a special interest in the interplay between genetic and psychosocial risk factors. He has led a major study into the effect of early severe deprivation on Romanian orphans adopted into Britain; this is now entering a third phase in which the subjects are followed up at age 15. He has published nearly forty books and over four hundred chapters and journal articles. He was deputy chairman of the Wellcome Trust from 1999 to 2004.

Abstract

There is an important group of disorders that have in common an onset in early childhood, an association with specific or general cognitive deficits, and a relatively persistent course characterized by a lack of remissions and relapses. Those considered here comprise autism spectrum disorders, attention-deficit hyperactivity disorders, dyslexia, and specific language impairment. All are substantially more common in males, for reasons as yet not known, and all involve a substantial genetic influence on liability. The concepts and findings on continuities with normality will be considered briefly. The available evidence on etiology, on neural abnormalities, and on outcome will be discussed in terms of possible implications for etiology and pathophysiology.

Biography

John Searle was born in Denver, Colorado, and educated at the universities of Wisconsin and Oxford, where he was a Rhodes Scholar. He holds all of his degrees, BA, MA, and DPhil, from Oxford, and he had his first teaching appointment there as a lecturer at Christ Church. Since 1959, he has been a professor at the University of California in Berkeley, where he holds the chair of Mills Professor of the Philosophy of Mind and Language. He has been a visiting professor at a very large number of universities both in the United States and internationally, including the universities of Oxford, Paris, Berlin, Frankfurt, Venice, Rome, Florence, Prague, Graz, Aarhus, Oslo, Campinas, and Lugano. He is the author of 15 books and over 150 articles. His work has been translated into 21 languages.

Professor Searle holds honorary degrees from universities in four different countries. Among his best known books are Expression and Meaning: Studies in the Theory of Speech Acts, Minds, Brains and Science, Intentionality: An Essay in the Philosophy of Mind, The Rediscovery of the Mind, The Mystery of Consciousness, The Construction of Social Reality, Rationality in Action, and Consciousness and Language.

Abstract

At the beginning of the investigation of consciousness, we need to remind ourselves of what we already know. 1. Consciousness, (subjective, qualitative, intentionalistic and unified) really exists as a real part of the biological world. It cannot be eliminated or reduced to something else. 2. All conscious states are caused by lower-level neuronal processes in the brain. 3. Consciousness is realized in the brain as a higher-level or system feature. 4. Consciousness functions causally in producing the behavior of conscious organisms.

Confusions about these four are common and derive from a set of mistaken assumptions. The main sources of the mistakes are the traditional dualistic vocabulary of mental and physical, the ambiguous concept of reduction, the traditional (from Hume) conception of causation and the concept of identity.

Once we get over the obstacles created by these confusions, we will not have solved the problem of consciousness, but we will at least have removed some of the major obstacles to its solution.

Biography

Nora D. Volkow, MD is the director of the National Institute on Drug Abuse (NIDA). Prior to this she was associate director for life sciences at Brookhaven National Laboratory (BNL), director of nuclear medicine at BNL, and director of the NIDA–Department of Energy Regional Neuroimaging Center at BNL. She was also professor at the Department of Psychiatry and associate dean for the medical school at State University of New York at Stony Brook.

Her research investigates the mechanisms underlying the reinforcing, addictive, and toxic properties of drugs of abuse in the human brain. She was the first to use imaging to investigate the neurochemical changes that occur in the human brain during drug addiction. More recent studies have employed imaging to investigate the effects of stimulant drugs, and to examine changes that occur with aging in the dopamine system.

Dr. Volkow received her MD from the National University of Mexico and performed her residency in psychiatry at New York University. She has authored or coauthored more than 280 peer-reviewed publications, three edited books, and more than fifty book chapters and non-peer-reviewed manuscripts. She is the recipient of multiple awards for her research, and is a member of the Institute of Medicine in the National Academy of Sciences. Dr. Volkow was named Innovator of the Year in 2000 by US News and World Report.

Abstract

Addiction is a disorder that involves complex interactions between a wide array of biological and environmental variables. Strategies for its prevention and treatment necessitate an integrated approach incorporating systems of analysis that span the molecular to the social. Pairing rapidly evolving technologies such as neuroimaging with sophisticated behavioral measurement paradigms has allowed extraordinary progress in elucidating many of the neurochemical and functional changes that occur in the brains of addicts. Although large and rapid increases in dopamine have been linked with the rewarding properties of drugs, the addicted state, in striking contrast, is marked by significant decreases in brain dopamine function. Such decreases are associated with dysfunction of prefrontal regions including orbitofrontal cortex (involved in salience attribution) and cingulate gyrus (involved in inhibitory control). In addiction, disturbances in salience attribution result in enhanced value given to drugs and drug-related stimuli at the expense of other reinforcers. By decreasing the addict's ability to refrain from seeking and consuming drugs, dysfunction in inhibitory control systems ultimately results in the compulsive drug intake that characterizes the disease. Discovery of such disruptions in the fine balance that normally exists between brain circuits underling reward, motivation, memory and cognitive control have important implications for designing multi-pronged therapies for treating addictive disorders.

Biography

Nancy Wexler, PhD, is the Higgins Professor of Neuropsychology in the departments of neurology and psychiatry of the College of Physicians and Surgeons at Columbia University, as well as the president of the Hereditary Disease Foundation. Involved in public policy, individual counseling, genetic research, and federal health administration, she is most widely known for her important 23-year study of the world's largest family with Huntington's disease, in Venezuela. Her work helped lead to the identification of the Huntington's disease gene at the tip of human chromosome 4.

Wexler received an AB from Radcliffe in 1967 and a PhD in clinical psychology from the University of Michigan in 1974. She currently holds or has held numerous public policy positions, including chair of the Joint NIH/DOE Ethical, Legal and Social Issues Working Group of the National Center for Human Genome Research, chair of the Human Genome Organization (HUGO), and Member of the Institute of Medicine. Wexler has served as a member of the board of directors of the American Association for the Advancement of Science and on the Advisory Committee on Research on Women's Health, NIH. She is a fellow at a number of professional organizations and has received numerous honors and awards, including several honorary doctorates, and in 1993 she received the Albert Lasker Public Service Award.

Biography

Huda Zoghbi is professor of pediatrics, neurology, neuroscience, and molecular and human genetics at Baylor College of Medicine, and is an investigator with the Howard Hughes Medical Institute. Dr. Zoghbi received her MD from Meharry Medical College in Nashville, Tennessee, and completed postgraduate training in pediatrics and pediatric neurology, and in molecular and human genetics at Baylor College of Medicine.

Dr. Zoghbi's research employs tools of modern genetics to understand both the proper development of the brain and specific neurodegenerative conditions. She has published seminal work on the molecular basis of the late-onset neurodegenerative disorder spinocerebellar ataxia type 1 (SCA1). Her work in neurodevelopment has led to the discovery of the gene Math1, which governs the development of several components of the proprioceptive pathway as well as hair cells in the inner ear. Zoghbi's group also discovered that mutations in the methyl-CpG-binding-protein (MECP2) cause the neurodevelopmental disorder Rett syndrome, which is a leading cause of mental retardation in girls and women.

Dr. Zoghbi is has received numerous honors for her work. She is a member of several professional organizations, and serves on the editorial boards of a number of prominent journals.

Abstract

Rett syndrome is a neurodevelopmental disorder that typically strikes many months after birth. Social and language development are disrupted, and normal motor function is replaced by unusual stereotypes. Rett syndrome is caused by a mutation in the gene encoding methyl-CpG-binding protein 2 (MeCP2), a protein involved in transcriptional repression and chromatin remodeling. Exactly how loss of normal function of this protein causes the complex neurobehavioral phenotypes observed in Rett syndrome and related disorders is the topic of intense investigation. Molecular, behavioral, and biochemical studies are beginning to provide clues about the role of MeCP2 in mature neurons and how it might regulate neuronal function.