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… distinction lets researchers separate genetics from environment. A sibling with more of the genetic variants linked to a trait, such as shyness, tended to score higher on …

… understanding between autistic and nonautistic people. The difficulty that each group has in reading the other runs deeper than a simple skills gap. Much of it stems …

… competition for space. This same separation also makes it possible to study brain activity during cooperation without that physical complication. It offers researchers a more direct way …

… 6852 (2023) PubMed Liu C. et al. Science 375, 1378–1385 (2022) PubMed Krok A.C. et al. Nature 621, 543–549 (2023) PubMed Chantranupong L. et …

Epilepsy and intellectual disability often occur alongside autism spectrum disorder (ASD), and researchers have long suspected that these conditions share common biological roots.

… forming connections with other neurons, making it genetically vulnerable. The same research team had previously identified this window as a time of heightened autism risk using an …

… learning-related differences in sensory function. By revealing how disrupted cortical–midbrain communication interferes with the flexible interpretation of environmental cues, this work offers a framework for …

… SVs4, making it difficult to identify those relevant to disease. Comparing variants within families and against hundreds of long-read reference pangenomes allowed the team to filter …

Recent SFARI-funded research challenges the idea that autism represents a single condition driven by a uniform set of genetic risk factors. Instead, the results support a developmental …

SFARI-funded research demonstrates that activating serotonergic 5HT2c receptors leads to an increase in intracellular calcium, early-response gene expression and elevated protein secretion into cerebrospinal fluid.

SFARI-funded research finds that RAPGEF4 is a key molecular regulator orchestrating prefrontal cortical maturation in primates.

SFARI-funded research demonstrates that SCN8A mutations underlying DEE-13 disrupt both cortical and hippocampal networks, but in distinct ways.

… Autism Spectr. Disord. 87, 101840 (2021) PubMed

… Neurosci. 27, 1864–1879 (2024) PubMed Karczewski K.J. et al. Nature 581, 434–443 (2020) PubMed Howe K.L. et al. Ensembl 2021. Nucleic Acids Res …

… stop+frameshift (c.2485dupA). To test if SINEUPs targeting CHD8 could be effective in vivo, the scientists turned toward an established zebrafish model of Chd8 haploinsufficiency, chd8p …

… high-resolution mapping of social behavior, this AI-driven approach offers new possibilities for studying autism and related neurodevelopmental disorders as well as identifying more precise interventions.

Two studies by different research groups — one led by Flora Vaccarino and the other by Juergen Knoblich — used brain organoids derived from pluripotent stem cells of people with …

In a mouse model of fragile X syndrome, Emily Osterweil and her colleagues show that excessive protein synthesis drives a pathological compensatory rise in protein degradation (by the …

A study by Caroline Robertson and her colleagues found that reduced social attention was not a static omnipresent characteristic of autism; rather, it was magnified only under certain …

Elise Robinson and colleagues identified a large genomic region — chromosome 16p — where a rare 16p11.2 variant associated with autism functionally converges with common polygenic variation across 16p …

Studies by two different research teams — one led by Ethan Greenblatt and the other by Emily Osterweil — both suggest that FXS cells under-synthesize large proteins, findings that …

Genevieve Konopka and colleagues coupled brain imaging with measures of gene expression to reveal that gene expression patterns in the cortex that typically underlie functional brain activity in …

Gina Turrigiano and colleagues showed that the phosphorylation state of the autism-associated synaptic scaffold protein Shank3 can bias synapses toward upward or downward homeostatic plasticity.

Vinod Menon and colleagues showed that a subregion of the auditory cortex decodes emotional cues in a communication partner’s voice and that this predicts social communication abilities …

Joshua K. Hartshorne, Stefano Anzellotti and colleagues used machine learning to disentangle variations in neuroanatomy that are specific to autism from variations common to the general population.

Catherine Dulac and her collaborators identified a population of cells in the hypothalamus that generate fever and influence the activity of brain areas associated with behavior during sickness …

So Hyun Kim, Catherine Lord and colleagues developed a new telehealth approach to autism assessment — the Brief Observation of Symptoms of Autism (BOSA) — for use during COVID-19 …

Daniel Geschwind and colleagues showed that Cntnap2 knockout mice exhibit alterations in brain-wide connectivity related to social behaviors and that oxytocin within the nucleus accumbens regulates changes …

Helen Bateup and colleagues showed that a loss of Tsc1 from striatal direct pathway neurons altered synaptic function and enhanced motor routine learning in mice. These findings suggest …

Yufeng Cheng, Wendy Chung, Chang “April” Shu and their colleagues used machine-learning models to develop a method for large-scale studies to estimate cognitive ability in individuals …

Ian Lipkin, Mady Hornig and colleagues showed that levels of immune molecules in mothers during pregnancy and in cord blood at birth are highly predictive of later autism …

Laura Andreae, M. Albert Basson and collaborators showed that Chd8 haploinsufficiency in mice was linked to changes in excitation/inhibition balance and disrupted homeostatic plasticity of prefrontal circuits.

SFARI Investigator Susanne Schmid and colleagues showed that loss of Cntnap2 in rats leads to immature-like delays in auditory cortex sound processing and overactive auditory neurons.

Ivan Iossifov, Michael Wigler and colleagues provided a detailed comparison of simplex and multiplex families with autism, supporting the view that de novo mutations are a more frequent …

Anna Penn and colleagues showed that loss of the supply of the hormone allopregnanolone (ALLO) from the placenta leads to cerebellar brain and behavioral deficits in male offspring.

SFARI Investigators Lilia Iakoucheva and Alysson Muotri and colleagues utilized 3D organoid brain cultures to demonstrate how defects in neuron migration are affected in 16p11.2 deletion and …

SFARI Investigator Bruce Herring and colleagues showed that ASD-linked mutations in Trio and NLGN1 cause deficits in synapse development and function.

Hisashi Umemori and colleagues showed that X-inactivation-based patchy expression of PCDH19 causes defects in presynaptic development and signaling in the mouse hippocampus, affecting memory processes.

Bence Ölveczky, Jesse Marshall and colleagues developed a new method, CAPTURE, for long-term behavioral tracking in rodents and demonstrate its utility in tracking behaviors in Fmr1-KO …

Olga Troyanskaya and colleagues developed a bioinformatics framework for the identification and prioritization of disease-associated enhancers.

Simon Chen and colleagues found that a reduction in locus-coeruleus noradrenaline neuromodulatory signaling contributes to altered motor learning in 16p11.2 deletion mice.

Lilia Iakoucheva and colleagues found that mice lacking a copy of the high-confidence ASD risk gene Cul3 have reduced brain volumes, potentially due to defects in Rho …

Melissa Gymrek and colleagues developed a framework for the identification and prioritization of de novo mutations at tandem repeats on a genome-wide scale and assessed their contribution …

Bilal Haider and colleagues found that Cntnap2 knockout mice exhibited deficits in visual perception and that these were associated with diminished excitation and elevated inhibition in the visual …

Jun Huh and colleagues found that maternal immune responses to infection may at least partially explain sex-specific differences in autism risk.

Michael Platt and colleagues found that monkeys create complex internal representations of social situations and uncovered neural circuitry supporting social cooperation.

Stelios Smirnakis and Huda Zoghbi observed an increase in the formation and stabilization of dendritic spine clusters in the cortex of MECP2 duplication syndrome mice.

Evan Eichler and colleagues used targeted sequencing in large neurodevelopmental cohorts, including SPARK, to identify new risk genes and relate genotype to phenotypic presentation.