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.
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.
Emmanuel Mignot is the Craig Reynolds Professor of Sleep Medicine at Stanford University. He discovered that human narcolepsy is caused by an autoimmune loss of approximately 20,000 hypothalamic neurons secreting the wake-promoting peptide hypocretin (also known as orexin). He also identified HLA-DQB1*06:02 and T-cell receptor genes as major susceptibility genes, which act together to promote a selective autoimmune process triggered by influenza A. Mignot has received numerous awards and is a member of the National Academy of Sciences and the National Academy of Medicine.
Dysregulated levels of neuromodulators and other chemical signals may contribute to behavioral characteristics of ASD. Yet previous efforts have often focused on only one signal at a time, and typically provide a static description of signal levels in the brain. In the current project, Mark Andermann and colleagues plan to use novel optical methods to track and control dozens of neuromodulators and peptides in the brain of a genetic mouse model of ASD.
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.
On May 21, 2019, the recipients of the SFARI Bridge to Independence Award gathered at the Simons Foundation to discuss their scientific findings and plans in autism research.
Jessica Cardin and colleagues identified an important and unexpected role for the VIP subclass of interneurons in mediating the functions of MeCP2 in the development of cortical circuits.
On August 4, 2022, SFARI and Simons Searchlight helped to host two scientific workshops focused on neurodevelopmental disorders (NDDs) that are linked to mutations in the CSNK2A1 and SETBP1 genes. Meeting in Baltimore, the workshops were held in conjunction with a family conference that gathered together people with these conditions and their family members.
Emmanuel Mignot discussed sleep biology as well as sleep disorders and their impact. He presented a link to what is known on the genetics of sleep and sleep disorders. He emphasized the need for large scale objective sleep recording studies with genomic and proteomic analysis to better understand the molecular pathways regulating sleep and circadian biology.
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.
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