SFARI | Simons Foundation Autism Research Initiative

SFARI’s mission is to improve the understanding, diagnosis and treatment of autism spectrum disorders by funding innovative research of the highest quality and relevance.

SFARI

Blog Upcoming changes to SFARI’s requests for grant applications

SFARI’s requests for grant applications will be undergoing a number of changes in the coming months. These changes include ending the Explorer Award program, updating the Pilot Award program to have twice-yearly receipt dates, and having a revamped Research Award program with an annual receipt date.

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.

NewsSFARI Gene: New data release

NewsSFARI survey: Request for feedback about iPS cell models of autism

Resources

SFARI is working to advance autism science by providing a number of key resources to researchers.

Cohorts

Simons Simplex Collection

The Simons Simplex Collection (SSC) contains genetic and phenotypic data from nearly 3,000 families with a child affected by autism.

Simons Variation in Individuals Project (Simons VIP)

The Simons Variation in Individuals Project (Simons VIP) is studying individuals with recurrent genetic variants that increase autism risk.

SPARK

SPARK is an online research initiative that aims to recruit 50,000 individuals with autism and their family members living in the U.S.

Models

Mouse models

SFARI is helping to make mouse models of high-risk autism genes and copy number variants available to the research community.

Rat models

SFARI is helping to make rat models of high-risk autism genes available to the research community.

Neural stem cell culture. Fluorescent light micrograph of groups of neural stem cells (neurospheres) in culture. Neural stem cells are able to differentiate into neurons (nerve cells) or support cells (glial cells). They are a potential source of cells to replace damaged or lost brain cells.

iPS cell models

SFARI is helping to make iPS cell lines derived from individuals who participated in the SSC and Simons VIP available to researchers.

Other Resources

SFARI Gene

SFARI Gene is an evolving database for the autism research community that is centered on genes implicated in autism susceptibility.

DNA analysis. Graphs showing the results of DNA (deoxyribonucleic acid) sequencing.

Data analysis tools

A number of visualization and analysis tools are available to explore genetic and phenotypic data from the SSC.

Therapeutics

Clinical Research Associates (CRA) is evaluating new potential treatments for autism, including R-baclofen and others.

SFARI Base

SFARI Base provides approved researchers with access to data and biospecimens from the SSC, Simons VIP, SPARK and Autism Inpatient Collection.

Autism BrainNet

Autism BrainNet is a collaborative network of academic sites that collects, stores and distributes brain tissue for autism research.

We solicit applications for SFARI Awards from individuals who will conduct bold, imaginative, rigorous and relevant research in four main research areas: gene discovery, molecular mechanisms, circuits, cognition and behavior, and clinical.

View Funding Opportunities

Funded Research

Since its launch in 2003, SFARI has supported over 400 investigators studying autism-related research in the U.S. and abroad. Research projects include studies at the genetic, molecular, cellular, circuit and behavioral levels, in addition to clinical and translational studies.

Research Highlights

Shared alterations in gene expression networks mirror genetic risk across neuropsychiatric disorders

In comparing gene expression profiles and SNP risk across psychiatric disorders, Michael Gandal, Daniel Geschwind and colleagues found that shared genetic risk manifests in alterations in gene networks.

Alterations in cellular pH gradients cause defects in neuronal communication and autism-related behaviors in mice lacking NHE9

Using a mouse lacking brain-localized NHE9, Edwards shows that pH gradients affect neuronal communication and autism-like behaviors.

Alternations in network communication, not synaptic dysfunction, linked to behavioral alterations in fragile X syndrome

Assessing network and synaptic communication in the hippocampus of behaving Fmr-1 null mice, André Fenton and colleagues showed altered network communication linked to behavioral alterations in fragile X syndrome.