Researchers need reliable methods to interpret autism candidate genes, including rodent models to assess the impact of genes on behavior. On 4 February, SFARI hosted a workshop to discuss the role of mouse models and behavioral assays in autism research. The participants concluded that the field should invest in techniques that can be standardized across laboratories and emphasized the importance of mouse models for identifying biomarkers and testing therapies.
Paul Wang, Deputy Director of Clinical Research Associates, L.L.C. (CRA), discusses the research that CRA supports, including human and animal studies using arbaclofen, a potential drug treatment for autism.
SFARI Investigator Liqun Luo discusses the neurodevelopmental disorder Smith-Magenis syndrome and his lab’s efforts to understand its underlying biology.
Liqun Luo uses conditional, cell-type-specific RAI1 deletions in mice to assess how loss of RAI1 contributes to neurodevelopmental phenotypes in Smith-Magenis syndrome.
New genetic variants that increase susceptibility to autism are emerging at a rapid pace. Given the profusion of data, it seems timely to assess the availability and usefulness of mouse models in which to study these genetic risk factors.
Researchers can use biomarkers to diagnose individuals with autism and to hone in on the underlying causes of the disorder. In July, SFARI held an informal meeting of minds at Stony Brook University to discuss biomarkers for autism.
The Innovative Medicines Initiative, a European public-private initiative, recently awarded a €115 million five-year grant for autism research. The Autism Innovative Medicine Studies-2-Trials (AIMS-2-Trials) brings together 48 partners from academia, industry and nonprofit foundations, including SFARI.
Clinical Research Associates, L.L.C., an affiliate of the Simons Foundation, has recently launched a randomized controlled trial to test the safety, tolerability and efficacy of arbaclofen in 16p11.2 BP4-BP5 deletion syndrome.
Because of the coronavirus pandemic, SFARI ran the fall 2020 science meeting virtually in a series of six weekly webinars, beginning on October 2, 2020. SFARI investigators presented their latest findings in autism research, ranging from autism genetics, through molecular mechanisms and neural circuits, to clinical insights.
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.
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