SFARI

Individuals with autism have deficits in social and emotional learning. The amygdala, a region of the brain involved in orchestrating emotion and emotional memory, is affected in individuals with autism. The nature of the dysfunction is not well characterized, however. Eric Kandel, Yun-Beom Choi, Craig Bailey and their colleagues at Columbia University Medical Center aim to examine the role of an autism-implicated protein, neurexin, at synapses in the amygdala. They also plan to investigate how neurexin is involved in fear memory, a function that is associated with the amygdala.

Autism arises in early childhood, during a period of intense learning when many of the brain’s connections are modified by experience. Eric Kandel, Yun-Beom Choi and Craig Bailey of Columbia University are using animal models of memory formation to investigate how two autism-associated proteins — neuroligin and neurexin — regulate this process.

Autism arises in early childhood, during a period of intense learning when many of the brain’s connections are modified by experience. Several autism-associated proteins also play important roles in memory formation.

The relationship between genetics and autism is not always straightforward, but some autism spectrum disorders are known to be caused by defects in a single gene. These simpler cases give researchers the opportunity to create animal models with the genetic defect and use them to test hypotheses about the mechanisms at work in autism.

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

Duplication of a small segment of human chromosome 7 has been found in some children with autism. Lucy Osborne and her colleagues at the University of Toronto aim to understand the effects of duplication of this region, 7q11.23, on the growth and function of the brain. They plan to study this using a mouse model with a similar duplication.

Recent studies have provided compelling evidence that loss-of-function mutations in the CHD8 gene, which encodes an ATP-dependent chromatin-remodeling factor, are associated with an autism subtype characterized by macrocephaly, specific craniofacial features and gut immobility. The CHD8 protein modifies the structure of chromatin in the cell nucleus, and in vitro studies have suggested that CHD8 might function as a regulator of the developmentally important Wnt and PTEN signaling pathways. Tight control of both of these pathways is critical for normal brain development, and mutations that affect their activity have been strongly associated with autism and brain size. It is therefore important to test whether CHD8 functions as a regulator of these pathways during brain development.

The Innovative Medicines Initiative, a European public-private initiative, recently awarded a €115 million five-year grant for autism research. The Autism Innovative Medicine Studies-2-Trials (AIMS-2-Trials) brings together 48 partners from academia, industry and nonprofit foundations, including SFARI.

The sense of touch allows us to navigate our physical world. The first step in tactile processing involves the activation of low-threshold mechanoreceptor neurons (LTMRs) with highly specialized endings in the skin. Social (affective) touch may be mediated by a unique class of slowly conducting C-fibers, the C-LTMRs.