The symptoms of fragile X syndrome stem from the loss of a single protein, raising the possibility that reintroducing FMRP could counter the key problems that lead to disrupted signal processing and aberrant behaviors. Turner is proposing a new means to reintroduce a short active fragment of FMRP back into central neurons in the Fmrp1 knockout mouse model to assess its potential utility as a therapeutic strategy to restore circuit and behavioral function in fragile X syndrome.
David Julius is the Morris Herzstein Chair in Molecular Biology and Medicine, and professor and chair of physiology at the University of California, San Francisco. The Julius lab is interested in understanding how signals are received and transmitted by the nervous system.
Anthony Wynshaw-Boris received his M.D./Ph.D. degrees from Case Western Reserve University School of Medicine. During his Ph.D. under the direction of Richard Hanson, he elucidated the sequences within the phosphoenolpyruvate carboxykinase (PEPCK) promoter required for activation by cyclic adenosine monophosphate (cAMP) and glucocorticoids. He did his residency in pediatrics at Rainbow Babies and Children's Hospital, followed by a medical genetics fellowship at Boston Children's Hospital. While in Boston, he did a postdoctoral fellowship at Harvard Medical School under the direction of Philip Leder, where he studied mouse models of developmental disorders.
In 1994, Wynshaw-Boris set up an independent laboratory at the National Human Genome Research Institute of the National Institutes of Health, where he initiated a program using mouse models to study human genetic diseases, with a focus on neurogenetic diseases. In 1999, he moved to the University of California, San Diego School of Medicine, where he became professor of pediatrics and medicine, as well as chief of the division of medical genetics in the department of pediatrics. In 2007, he moved to the University of California, San Francisco School of Medicine, where he was the Charles J. Epstein Professor of Human Genetics and Pediatrics and the chief of the division of medical genetics in the department of pediatrics. In June 2013, he returned to Case Western Reserve to become the chair of the Department of Genetics and Genome Sciences.
SFARI Investigator Sung Han discusses his lab’s work and how the Bridge to Independence Award helped him launch his independent career in autism research.
Most individuals with autism experience at least one form of hypersensitivity from the five senses. These alterations in sensory-related behaviors can lead to profound limitations on an individual’s ability to work, interact with family and participate in leisure activities. Furthermore, these atypical responses to otherwise normal sensory stimuli may be closely associated with the core symptoms of autism, such as social deficits and repetitive behaviors. Despite the importance of sensory abnormalities in the pathogenesis of autism, how the brains of individuals with autism receive information from the five senses at the subcortical level and how such information becomes transformed into aversive responses has not been investigated.
Attentional deficits are a major cause of disability in individuals with autism. Recently, Vikaas Sohal and colleagues described a possible circuit mechanism contributing to attentional deficits in autism[ref]Luongo F.J. et al. Biol. Psychiatry 79, 667-675 (2016) PubMed[/ref]. For the current project, Sohal proposes to identify a specific cellular locus underlying these circuit abnormalities.
A hallmark of autism is impairment in reciprocal social interaction, including inadequate eye contact and failure to recognize emotions. Research shows that the neuropeptide oxytocin modulates social behavior. In mice, rats, monkeys and sheep, for instance, administration of oxytocin enhances social recognition, memory of peers, and development of partner preference and bonding. In people, including those with autism, oxytocin nasal spray can significantly enhance social cognition.
Perturbed neuronal arborization, or branching, and defects in long-range connectivity are likely to be shared mechanisms in many forms of severe autism. Neurotrophic factors (proteins that play a role in the growth and maintenance of neurons) and their cognate receptors, such as brain-derived neurotrophic factor (BDNF) and TrkB, respectively, govern the development of neuronal circuitry, in part, through signaling at the level of intracellular organelles known as endosomes. The protein NHE6 localizes within the cell membranes that form endosomes. Moreover, through its role in mediating the transport of protons (H+) out of endosomes in exchange for the import of sodium (Na+) ions, it contributes to modulating endosome acidity.
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by impairments in social interaction and communication, and restricted, stereotyped behaviors that manifest in early childhood. Research findings have identified widespread changes in the immune system in children with autism.
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