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Posts Tagged ‘Mutation’

Don’t ask what the genes for Prader-Willi syndrome do, ask where

Posted in Uncategorized, tagged , , , , , , , , , , on April 8, 2010 | Leave a Comment »

Image by Si1very via Flickr In an earlier post on Williams Syndrome, we delved into the notion that sometimes a genetic variant can lead to enhanced function – such as certain social behaviors in the case of WS.  A mechanism that is thought to underlie this phenomenon has to do with the way in which [...]

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FMR1 points to mechanisms of tactile defensiveness in autism spectrum disorders

Posted in FMR1, Somatosensory cortex, Thalamus, tagged , , , , , , , , , , , , on February 13, 2010 | Leave a Comment »

Image by cobalt123 via Flickr If you have a minute, check out this “Autism Sensory Overload Simulation” video to get a feel for the perceptual difficulties experienced by people with autism spectrum disorders.  A recent article, “Critical Period Plasticity Is Disrupted in the Barrel Cortex of Fmr1 Knockout Mice” [doi: 10.1016/j.neuron.2010.01.024] provides some clues to [...]

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C.H. Waddington provides conceptual framework for shifting influences of genes and environment in the development of mind

Posted in Uncategorized, tagged , , , , , , , , , , , , , on January 12, 2010 | Leave a Comment »

Just a pointer to onetime University of Edinburgh Professor C.H. Waddington’s 1972 Gifford Lecture on framing the genes vs. environment debate of human behavior.  Although Waddington is famous for his work on population genetics and evolutionary change over time, several of his concepts are experiencing some resurgence in the neuroimaging and psychological development literatures these [...]

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resourceblog: Understanding the molecular basis of cognitive and social impairment in the autism spectrum disorders

Posted in HDACs, MECP2, tagged , , , , , , , , , , , , on September 24, 2009 | Leave a Comment »

Image via Wikipedia The cognitive and emotional impairments in the autism spectrum disorders can be difficult for parents and siblings to understand and cope with.  Here are some graphics and videos that might assist in understanding how genetic mutations and epigenetic modifications can lead to various forms of social withdrawl commonly observed in the autism [...]

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White-matter correlates of gene penetrance reveal key brain circuits for dystonia

Posted in Cerebellum, Motor cortex, Thalamus, Thap1, Torsin A, tagged , , , , , , , , , , on August 14, 2009 | Leave a Comment »

Image via Wikipedia Within the genetic news flow, there is often, and rightly so, much celebration when a gene for a disease is identified.  This is indeed an important first step, but often, the slogging from that point to a treatment – and the many small breakthroughs along the way – can go unnoticed. One [...]

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Dendritic branching a good thing ? sez6 sez it ain’t so

Posted in SEZ6, tagged , , , , , , , on January 7, 2009 | Leave a Comment »

Image via Wikipedia If you like gardening, the doldrums of winter can be dreary indeed. Although I’d never admit to it, my neighbors might swear to having seen me outside strangely (pathetically) counting the number of branches on my icicle-laden roses and rhododendrons.  In any case, I do admit to spending way too much time [...]

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Spontaneous mutations and genetic risk

Posted in Uncategorized, tagged , , , on April 16, 2007 | Leave a Comment »

Mike Wigler’s team at Cold Spring Harbor Labs finds that spontaneous mutations are more prevalent in patients with autism than in patients with a first-degree relative also with autism. Perhaps the comparative genomic hybridization methods applied in this case will prove useful in sifting our spontaneous vs. ancestral forms of genetic variation in other diseases [...]

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