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Oops the media did it again…

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Last week CNN.com reported on a study that showed slight improvement of autism symptoms in children that received a single infusion of their own umbilical cord blood.  While the study was interesting, the authors were the first to acknowledge the limitations, however, this did not stop the media from misrepresenting the results.  Details are explained in this podcast.  In addition, a big win this week for precision or personalized medicine:  different symptoms and different genetic mutations are linked to different outcomes from different anti-seizure medications.

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Another gene that causes autism and what families are doing about it

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A gene that controls electrical activity in the brain, SCN2A, has been linked to autism for awhile.  But recently, a new study from China shows that mutations of this gene are seen in about 1% of people with autism.  This may put it into the category of the rare mutations that have a major contribution to autism symptoms.   In addition to autism, mutations of these gene are associated with seizures and epilepsy.  Because of the relatively high rates of mutations of this gene in autism and epilepsy, an amazing group of motivated families formed an organization to help support and awareness for this gene mutation.  This week’s podcast includes a message from one of the leaders of this foundation:  FamileSCN2A who are dedicated to help their children with the knowledge about their child’s genetic makeup.