Online measures have the potential to provide greater sensitivity to change in longitudinal studies and clinical trials. In the current study, Thomas Frazier and colleagues plan to develop and validate an online evaluation tool that includes: (1) a survey completed by caregivers to better understand behavior and functioning and (2) patient-completed measures that use a webcam to collect gaze and facial expression responses to evaluate thinking skills. If successful, the measures developed could greatly enhance research in autism and related neurodevelopmental genetic syndromes and might one day enhance clinical practice.
New Simons Searchlight data were recently added to SFARI Base. This data release included phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, 7q11.23 duplication and variants in 32 single genes associated with autism and related neurodevelopmental conditions.
Zebrafish lines for autism risk genes DYNC1H1 and MEF2C have been recently added to SFARI resources to study autism spectrum disorder.
Julia Dallman is an associate professor in the Department of Biology at the University of Miami. She also directs the University of Miami Zebrafish Facility.
New Simons Searchlight data were recently added to SFARI Base. This data release included phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, 7q11.23 duplication and variants in 32 single genes associated with autism and related neurodevelopmental conditions.
SFARI is pleased to announce that it intends to fund 19 grants in response to the Summer 2020 Pilot Award request for applications.
SYNGAP1 encodes a neuronal Ras GTPase activating protein and is a significant risk gene associated with autism spectrum disorders (ASDs) and intellectual disability (ID). As many of the genetic mutations in individuals with SYNGAP1-related ID (SRID) lead to decreased SYNGAP1 expression, SRID is an ideal candidate for genetic and antisense oligonucleotide–based therapies that increase SYNGAP1 expression. Leveraging recently discovered regulatory mechanisms of SYNGAP1 expression, Richard Huganir’s team plans to design precision antisense oligonucleotides that increase SYNGAP1 expression and to validate them using human pluripotent stem cell models of SRID. These studies will help to advance the therapeutic potential of antisense oligonucleotide–based treatments for SRID as well as other monogenic forms of ID and ASD.
Kurt Haas and colleagues used multiple models and bioassays to assess the functional impact of more than 100 missense and nonsense mutations in PTEN, allowing for high-confidence predictions of pathogenicity.
New Simons Searchlight data were recently added to SFARI Base. This data release included phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, 7q11.23 duplication and variants in 29 single genes associated with autism and related neurodevelopmental conditions.
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