Chromosome 15-apallooza

One of areas of genetic interest of autism is a region of chromosome 15.  Only about 3% of people with autism have the mutation, but 80% of those with the mutation have autism.  It is so important that people with duplications of this area have formed their own advocacy group called the Dup15 Alliance.  I was honored to attend their family an scientific meeting and give a summary of what scientists have learned about autism through studying this chromosome, how kids with this mutation and autism are similar and different from those with autism but not the mutation, how the families are managing life threatening seizures, what the gene does, what the brains look like, and how mutations of this chromosome do in fact interact with the environment.  Thank you to the scientists who study this area and the very brave, selfless and amazing parents who I talked to.

Oops the media did it again…

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.

Exploiting genetics to understand environmental risks for autism

On March 13th, Dr. Mark Zylka from UNC gave a 60 minute overview of how researchers are using autism-relevant genetic mutations in cells to start to understand the interactions between genetics and thousands of environmental factors on gene expression.  He pointed out the convergence of pathways in how genes and these environmental factors worked in the brain, and they included:  neuroinflammation, early brain development, turning neurons on and off, and cell signaling.  Dr. Valerie Hu from George Washington University commented on the important impact of these results and perspective from her lab studying epigenetically modified genes, like RORA, which also may be sensitive to common chemicals found in our environment.  The entire webinar, including the questions that they were able to answer from participants, is found here.