Genetic studies of ASD implicate alterations in synaptic development and signaling, with the synaptic protein neurexin-1 playing a pivotal role. Ann Marie Craig aims to develop new approaches to overcome neurexin-1-linked synaptic deficits in ASD by modulating the remaining NRXN1 allele to boost neurexin-1 function and restore synaptic structure and function.
The neuron-specific potassium-chloride co-transporter, KCC2, is involved in the regulation of excitatory and inhibitory neuronal activity. It has been identified as a promising therapeutic target for autism. In the current project, Charles Craik’s laboratory and collaborators plan to determine the high-resolution structure of KCC2 with the intention of developing strategies to regulate its activity.
SPARK is an online research initiative that aims to recruit 50,000 individuals with autism and their family members living in the U.S.
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.
Gerald Crabtree, Joseph Gleeson and colleagues defined a new recessive form of ASD caused by mutations in ACTL6B, part of the BAF complex, which regulates activity-responsive transcription in resting neurons.
The International Society for Autism Research (INSAR) Virtual 2021 Annual Meeting was held May 3–7, 2021. A selection of presentations by SFARI Investigators, SFARI staff and collaborators are highlighted here. Virtual content is available online until early June 2021 (for registered meeting participants only).
SPARK (Simons Foundation Powering Autism Research for Knowledge) is an autism research initiative that aims to recruit, engage and retain a community of 50,000 individuals with autism and their family members living in the U.S. Participation in this cohort will involve contribution of medical and behavioral information, mailing in saliva for genetic analysis, the potential option to have genetic findings related to autism returned, and consenting to be invited to participate in future research studies.
Albert Basson is a professor of developmental neurobiology at the Centre for Craniofacial and Regenerative Biology and the Medical Research Council (MRC) Centre for Neurodevelopmental Disorders at King’s College London.
John Rubenstein is a professor at the University of California, San Francisco. The goal of his laboratory’s research is to elucidate fundamental mechanisms that regulate development of the forebrain, with a focus on the cerebral cortex and basal ganglia. The studies in his laboratory also extend into other regions of the embryo, including the developing face. Whenever possible, Rubenstein attempts to investigate whether disruption of these mechanisms underlie human disorders, such as autism, schizophrenia, intellectual disability, epilepsy and craniofacial disorders. The overarching hope is that these studies provide insights and new inroads into diagnosis, prevention and treatment of these disorders.
SFARI is pleased to announce that it has awarded 13 grants in response to the Explorer Awards request for applications this year.
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