The chromosomal region 16p11.2, which spans about 29 genes, is strongly linked to autism. On 27 April, SFARI hosted a workshop to discuss the consequences of duplications or deletions of this region.
Studies suggest that a subset of children with autism make significant social and language gains in the first year of life, and then experience a dramatic loss of skills, termed regression. On 13 February, SFARI hosted a workshop to explore whether children with regression are a unique subgroup, and concluded that most children with autism show a gradual decline in skills rather than an abrupt loss of abilities.
Dysregulation of the intracellular signaling pathway RAS, a risk factor for idiopathic autism, may provide a unifying theory of the disorder. Although this is not an altogether new hypothesis, several new findings have strengthened the evidence for it considerably.
More than 100 investigators and clinicians who worked together on the Simons Simplex Collection gathered in New York City to celebrate their landmark achievement in autism research.
Researchers can use biomarkers to diagnose individuals with autism and to hone in on the underlying causes of the disorder. In July, SFARI held an informal meeting of minds at Stony Brook University to discuss biomarkers for autism.
SFARI scientific director Gerald Fischbach and principal investigator Catherine Lord of the University of Michigan published The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors on 21 October in the journal Neuron.
In a milestone for the autism research community, SFARI has finished recruiting families to participate in the Simons Simplex Collection (SSC). The foundation has now shifted from recruitment of these families to supporting their continued participation in future research studies.
Preliminary studies suggest that the so-called ‘love hormone’ oxytocin could improve some of the social deficits characteristic of people with autism. On 11 April, SFARI hosted a workshop to explore oxytocin’s relationship to social behavior and its potential as a therapy for autism.
Children with autism often have behaviors that suggest problems with attention. It is unclear whether this attention deficit causes the other symptoms of autism or is a consequence of the disorder. On 4 February, SFARI hosted a workshop to discuss the nature of differences in attention in people with autism.
SFARI is pleased to announce the SFARI Explorer Awards program: an initiative designed to provide timely support to innovative, high-risk experiments relevant to our mission.