The National Institute of Mental Health (NIMH) in the U.S. has a blog post up discussing NIMH’s Top 10 Research Events and Advances of 2010.
7) The autistic brain. Autism spectrum disorder (ASD) has been recognized as a disorder of brain development, but there have been few clues to what is different in the brain of someone with ASD. Several papers this year described differences in structure of brain regions; patterns and strength of connections between brain regions; and function of brain circuits.10-13 One intriguing brain imaging study looked at brain activity in response to social information in children with ASD, their unaffected siblings, and controls. Compared to controls, both children with ASD and their unaffected siblings showed different brain activity patterns in some regions. Remarkably, the brains of unaffected siblings appeared to compensate for the difference with additional brain activity in other regions.14
The references are:
Autism is mentioned two more times (emphasis added)
3) DNA sequencing. The cost of DNA sequencing has dropped by a factor of 10 every year for the past few years. This new capacity to sequence rapidly and inexpensively the full genome (or candidate gene regions) is transforming psychiatric genetics. In previous years, costs have constrained full genome sequencing efforts, and investigators have compensated by using strategies to search for hints of variation in certain regions of the genome. This year, however, whole genome sequencing in multiple individuals finally became a reality. The result was the discovery of enormous genomic variation across healthy subjects, with hundreds of thousands of rare gene variants identified and, on average, each child showing 50 – 100 new mutations not present in his or her parents.3 We have also learned that autism, schizophrenia, and other neurodevelopmental disorders are associated with rare “structural” variations in the genome, sometimes involving millions of bases of DNA.4 Only through full genome sequencing efforts will we be able to understand the scope of these rare variations and their contribution to the causes of mental disorders.
8) Disease-in-a-dish. History may judge one of the most important discoveries in the past decade to be the creation of induced pluripotent stem cells (iPSCs): cells taken from adults, de-differentiated into a pluripotent state (in which they have the potential of becoming any cell type), and then differentiated into a mature cell type. For example, a skin cell taken from an adult can be made pluripotent and then differentiated into a neuron. This year, we saw this revolutionary technology begin to shed light on Rett Syndrome, a genetic disorder that causes autism. Marchetto et al. (Cell, Nov, 2010) derived iPSCs from patients with Rett Syndrome and then differentiated them into neurons in vitro (e.g. “in-a-dish”), with a range of abnormalities corresponding to observed neuronal abnormalities seen in Rett Syndrome patients.15 These cells were useful not only for identifying the process of developing Rett pathology but also allowed testing of potential treatments.
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