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.
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.
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.
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.
On April 17, 2018, molecular neuroscientists and geneticists gathered at the Simons Foundation for a workshop on the role of chromatin-associated proteins in autism spectrum disorder. The workshop discussed the biology and function of these proteins in brain development, while considering translational opportunities and evaluating ways that SFARI could potentially help move research in this area forward.
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.
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.
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.
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.
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