SFARI | Author: emily

Genomics of ASD: Pathways to Biological Convergence and Genetic Therapies – Request for Applications

SFARI's 2022 Genomics of ASD: Pathways to Biological Convergence and Genetic Therapies RFA is now open. Grants awarded through this RFA are intended to improve our understanding of the molecular and cellular consequences of genetic risk for autism spectrum disorder (ASD), and to provide a foundation for the development of new therapies.

New zebrafish lines added to SFARI resources

Zebrafish lines for autism risk genes DYNC1H1 and MEF2C have been recently added to SFARI resources to study autism spectrum disorder.

Reminder about SFARI’s acknowledgment policy

SFARI would like to remind investigators to please acknowledge SFARI funding and/or the use of SFARI resources, biospecimens and data in all relevant preprints and publications.

SFARI spring 2020 science meeting goes online

Due to the COVID-19 pandemic, SFARI replaced the in-person spring 2020 science meeting that was scheduled April 5–7 with a series of seven weekly webinars held between April 17 and May 29.

Binocular rivalry: A noninvasive biomarker of inhibitory signaling in the brain?

Caroline Robertson and colleagues developed a novel paradigm that provided direct neural evidence for slower binocular rivalry in autism. They also demonstrated a causal link between GABAergic inhibition and rivalry in neurotypical individuals, suggesting that this tool may serve as a noninvasive marker of inhibitory signaling in the brain.

A joint variant call-set for all Simons Simplex Collection whole-genome sequences is now available

A uniform call-set of joint variant calls, including single-nucleotide variants and indels, for 9,209 samples with whole-genome sequencing data from the Simons Simplex Collection is now available.

Brain slices. Gloved hands hold a microscope slide of a section through a human brain above an assortment of other brain sections on a lightbox. The slide being held up and the lower row of slides are coronal slices through the frontal region of the cerebrum. The cerebrum is the part of the brain involved with conscious thought and sensory processing. The other two rows of slides are sections through the cerebellum, which coordinates movement and balance. By examining brain slices under a microscope the health of the brain can be determined.

Autism BrainNet establishes collaboration with the Douglas-Bell Canada Brain Bank

Autism BrainNet has established a new collaboration with the Douglas-Bell Canada Brain Bank. This alliance will allow Canadian individuals and families the opportunity to consider making a postmortem brain donation to help advance autism research.

SFARI December 2018 announcements: 2018 Bridge to Independence awardees, new version of SFARI Base and more

This issue of the SFARI newsletter includes: (1) 2018 Bridge to Independence awardees announced, (2) A new version of SFARI Base has launched, (3) SFARI Gene: New data release, (4) SFARI workshop discussed digital tools for phenotyping cognition and behavior in autism spectrum and other brain disorders, (5) SFARI-funded publications, (6) 2019 Research Awards – Request for applications, (7) Past lecture: André Fenton, “Rethinking autism and animal models: A systems perspective”, (8) Past lecture: Pawan Sinha and Dagmar Sternad, “The predictive impairment hypothesis in autism: An empirical assessment”.

SFARI facilitates research opportunities at family meetings of rare genetic developmental disorders

Family-organized groups are planning a number of meetings in 2019 for individuals with rare genetic neurodevelopmental conditions, including those due to 16p11.2 copy number variants and mutations in ASXL3, PACS1, PPP2R5D, SCN2A and STXBP1 single genes. SFARI can help to facilitate research opportunities at these meetings by connecting investigators with families.

Normal human chromosomes visualized by spectral karyotyping (SKY). Spectral karyotyping is a molecular cytogenetic technique used to simultaneously visualize all the pairs of chromosomes in an organism in different colors. Fluorescently labeled probes for each chromosome are made by labeling chromosome-specific DNA with different fluorophores. Because there are a limited number of spectrally distinct fluorophores, a combinatorial labeling method is used to generate many different colors. Spectral differences generated by combinatorial labeling are captured and analyzed by using an interferometer attached to a fluorescence microscope. Image processing software then assigns a pseudo color to each spectrally different combination, allowing the visualization of the individually colored chromosomes. This technique is used to identify structural chromosome aberrations in cancer cells and other disease conditions when Giemsa banding or other techniques are not accurate enough.

SFARI Gene: New data release

New data were added to SFARI Gene in April 2018. This data release included updated gene scores for candidate autism risk genes, as well as the addition of new genes, animal models, and copy number variant loci associated with autism.