In March I had the pleasure of attending a symposium at UC Davis MIND Institute about gene-environment interactions in autism causation. A Morgan Autism Center parent, Jill Escher, opened the conference with a short talk about a surprising discovery that may have considerable implications for autism research. You can see the video here: autismepigenetics.org. Just scroll down the home page and you will see the videos listed with Jill's at top. Note that the videos, which link to the UC Davis website, may take a little while to load.
In brief, Jill was intrigued by a casual comment a family friend made to her when she was quite young. The friend referred to Jill as a ‘miracle’ baby. She got to wondering what was so miraculous and that led to Jill obtaining her own prenatal records. That alone is a miracle. How many of us could access our mother's prenatal records? She discovered she had been heavily prenatally exposed to synthetic hormone drugs that were not uncommonly given to pregnant women in the 1960s. Because her mother was given medications, she was part of a study about which Jill also obtained information. Not one to wait around, Jill contacted scientists from around the world with questions. After speaking with many experts, she developed a hypothesis now known as the "germline disruption hypothesis of autism," that ties these novel mutations in autistic (and other) children to various acute exposures (including drugs, maternal smoking, endocrine disruptors) that disrupted the proper epigenetic (chemical tags that control gene expression) programming of a parent's gametes, sperm or egg.
Jill pretty much single handedly pulled together this remarkable assembly of scientists at the UC David MIND Institute for this symposium. The other videos from this symposium featuring top experts in this field are also fascinating, though many are highly technical and involve intricacies of molecular biology. The whole event was exceptional. Of course, it has led to more interest in the field. Jill was recently invited to speak at a National Institute of Health with Autism Speaks in DC and just today, an article was published in Environmental News. http://www.environmentalhealthnews.org/ehs/news/2013/autism-epigenetics.
Jill has also been invited to do a TED talk. Things are definitely happening because of this one mom's tenacity. Congrats to Jill and let's hope this discovery helps move autism research in promising new directions.