Tom Insel (NIMH) talks Schizophrenia, De Novo Genes and Optogenetics.

Director’s Blog: A Sampling of Summer Science

By Thomas Insel on August 6, 2013

The summer is far from over, but already we can say that this has been an exceptional season for research on mental illness. Three recent discoveries are worth noting.

Gulsuner and colleagues just published a report on genes disrupted by de novo mutations in schizophrenia.1 These kinds of genetic mutations are called “de novo,” because they are not present in either parent’s blood cells but presumably arose via a mutation in either egg or sperm. These mutations are slightly more common in “sporadic” schizophrenia—those cases in which there is no family history of schizophrenia. De novo mutations are very common in the general population and probably most have no functional significance. Gulsuner and colleagues looked specifically at the subgroup of mutations predicted to be functional, based on the actual genetic change. These damaging mutations were found in 45 percent of people with schizophrenia, compared with 30 percent of their unaffected siblings. Such a modest increase may be statistically significant but it is not particularly informative.

This story became interesting when …

The rest at Link



Optogenetics, a fascinating and exciting research tool has been covered previously on this blog and the potential to assist us in understanding mental illness / neurodevelopmental disorders seems almost limitless.


This entry was posted in Autism, co-morbid, Epigenetics, Genetics, Neurology, Schizophrenia, Treatment. Bookmark the permalink.

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