Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants.
Soma-targeted imaging of neural circuits by ribosome tethering.
SFARI July 2020 announcements: 2020 Research awardees, SFARI’s response to appeals for racial justice in science and society, SPARK update and more
This issue of the SFARI newsletter includes: (1) SFARI 2020 Research awardees, (2) SFARI’s response to appeals for racial justice in science and society, (3) SPARK update: New phenotypic data now available, (4) SFARI Gene: New data release, (5) Requesting SFARI data and biospecimens during COVID-19 pandemic, (6) SFARI abstracts and e-posters at INSAR 2020 Virtual, (7) SFARI Investigator and board member elected to the National Academy of Sciences, (8) SFARI Investigators and board member elected to the American Academy of Arts & Sciences, (9) Workshop report: SFARI workshop explores challenges and opportunities of gene therapies for autism spectrum disorder, (10) Highlights of SFARI-funded research, (11) Past webinar: Allyson Berent, “From parent advocate to nonprofit chief science officer, to biotherapeutic company cofounder — A personal journey through drug development for Angelman syndrome.”
Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice.
Requesting SFARI data and biospecimens during COVID-19 pandemic
SFARI would like to remind researchers that they can still request many SFARI resources, including genetic and phenotypic data as well as biospecimens, at this time. Researchers can also submit applications to recruit individuals with autism and their families for new research studies.
SFARI workshop explores challenges and opportunities of gene therapies for autism spectrum disorder
On February 6–7, 2020, SFARI convened a two-day workshop to explore the possibility of gene therapies for autism spectrum disorder.
A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness.
Enhancing WNT signaling restores cortical neuronal spine maturation and synaptogenesis in Tbr1 mutants.
SFARI Gene: April 2020 new data release
New data were added to SFARI Gene in April 2020. This data release included the addition of new candidate autism risk genes, new curated references of copy number variations associated with autism, as well as updated gene scoring criteria. New mouse models derived from notable autism risk genes were also added.
Progress in understanding the genetic basis of mental health
Benjamin Neale discussed progress in mapping genetic risk factors for autism, schizophrenia and bipolar disorder.
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