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From the very beginning of the brain's formation, to brain wiring in infancy and early childhood, to the health of individual nerve cells, Children's researchers are uncovering new ways of looking at neurologic disorders from autism to Alzheimer's.
Xi He, PhD, studies the very beginning of neural development as the early embryo takes shape. He is a world leader in the study of Wnt signaling pathways, which guide embryonic development and the growth and orientation of nerve fibers. Defects in Wnt signaling have been linked to neurologic disorders and other diseases, including brain tumors.
Gabriel Corfas, PhD, studies how neural stem cells in the brain "decide" what kind of cell to make, and when. Making too much or too little of a certain cell type at a given time could disrupt brain wiring. A pathway Corfas discovered that influences this timing may have implications for diverse diseases from Alzheimer's to autism.
Corfas also recently showed that defects in white matter—the fatty coating that insulates nerve fibers—are a key contributor to schizophrenia, providing a new way of thinking about this disease.
Christopher Walsh, MD, PhD, studies rare brain malformations, searching for genes that regulate the development, size, form and function of the human cerebral cortex. Mutations in these genes can lead to autism, epilepsy, mental retardation and other learning disorders. Studies of what these genes do is giving new insight into how the brain develops, how it evolved and how it works.
Chinfei Chen, MD, PhD, studies how synapses mature and strengthen during brain development, monitoring functional changes in brain circuitry with electrophysiological techniques. Recently, her team showed in mice that the brain retains the ability to rewire itself later than had been thought—a discovery with important implications for developmental disorders such as autism and Rett syndrome.
Michael Greenberg, PhD, studies the genetic programs that guide the formation and maturation of synapses—connections between a nerve cell and its neighbors. He's found that incoming signals activate cellular networks that turn on some 300 different genes involved in synapse development. Many genetic diseases affecting cognition disable parts of this network.
Thomas Schwarz, PhD's genetic studies in mutant fruit flies have identified novel features of synapse development and neurologic disease, such as the importance of mitochondria in synaptic function and how dysfunction of these cell "powerhouses" can lead to nerve cell pathologies. His work is increasing the understanding of what is needed to build a synapse.
Gabriel Kreiman, PhD, studies the architecture of brain circuits and how these circuits encode, process and transmit information. His lab has provided the first evidence that single neurons can store very robust and specific visual information and memories—even responding to images of U.S. presidents.
Takao Hensch, PhD, and Michela Fagiolini, PhD, study how circuits in the brain are shaped by experience during "critical periods" in early postnatal life, when the brain is especially malleable and able to rewire itself.
Charles Nelson, PhD, a developmental cognitive neuroscientist, is studying how memory develops and how babies and children process faces and facial emotion, using techniques that monitor electrical and metabolic activity in the brain. His current work is seeking early differences in face processing in children with autism.
Joseph Volpe, MD, is generally considered to have founded the field of neonatal neurology. His research is aimed at defining the mechanism of and strategies to prevent brain injury in premature infants.
Mustafa Sahin, MD, PhD, studies axon guidance—how nerve fibers make connections with other neurons. He is a leader in the study of tuberous sclerosis complex (TSC), a genetic disease whose complications include epilepsy and mental retardation, showing that patients' brains are miswired. These studies may also provide clues to autism, which affects 50 percent of TSC patients. In addition, Sahin is studying axon guidance in spinal muscular atrophy, the leading genetic cause of infant death in the U.S., for which there is currently no treatment.
Zhigang He, PhD, and Larry Benowitz, PhD, seek to reawaken the regenerative capacities of axons—the long nerve fibers serving as the main transmission lines of the nervous system—helping people recover from stroke, spinal cord injury, blindness and other conditions. At right, axon regrowth with oncomodulin, a recently discovered growth factor (asterisks mark injury sites).
Frances Jensen, MD, is a world authority on the mechanisms of brain injury in newborn infants. She has documented differences between the newborn and adult brain that have led her to devise age-appropriate therapies, now under development for clinical trials. Her current work also focuses on preventing cognitive and behavioral complications of early-life seizures (see article)
Elizabeth Engle, MD, is a leading authority on congenital disorders that rob patients of normal control of their eye movement. Her research on the causes of congenital strabismus (misaligned eyes) and ptosis (drooping eyelids) has identified genes mutated in these disorders and the resulting errors in motor neuron development.
Scott Pomeroy MD, PhD, Children's Neurologist-in-Chief, is studying how brain cells deviate from their normal developmental path and become cancer "stem cells" capable of forming tumors -- in particular medulloblastoma, the most common malignant brain tumor of childhood. His lab is investigating several developmental mechanisms that lead to medulloblastoma when disrupted, and, through comprehensive genetic studies, has identified several possible targets for blocking tumor growth.
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