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 diagnoses.
Research Highlights
Highlights of SFARI-funded papers, selected by the SFARI science team.
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.
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Alterations in sound processing in Cntnap2 rats provide insights into mechanisms of language-related disorders
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.
New genetic analyses provide estimates of de novo mutations in low- and high-risk families with autism
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 cause of autism in low- than in high-risk families.
Study finds placental hormone is critical for fetal brain development
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.
Human derived 3D brain cultures provide insights into brain size changes in 16p11.2 conditions
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 duplication conditions.
New study supports role for disruptions in synapse development and function in ASD
SFARI Investigator Bruce Herring and colleagues showed that ASD-linked mutations in Trio and NLGN1 cause deficits in synapse development and function.
Patchy expression of Pcdh19 in female mice causes defects in hippocampal neuron presynaptic development signaling and memory processing
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.
High-resolution rodent movement tracking provides the opportunity to link autism risk genes with behavioral presentations
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 rats.
A machine-learning framework for prioritizing disease-associated enhancers
Olga Troyanskaya and colleagues developed a bioinformatics framework for the identification and prioritization of disease-associated enhancers.
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