Autism Epigenetics News
Updates from the Escher Fund for Autism, May 2015
Visit GermlineExposures.org for:
• Grant information
• Expert Q&As
• Germline epigenetics in the news
• Germline development and reprogramming backgrounder
• Blog
Autism Multiplex Family Profile: The Hutchens Family
Updates from the Escher Fund for Autism, May 2015
Visit GermlineExposures.org for:
• Grant information
• Expert Q&As
• Germline epigenetics in the news
• Germline development and reprogramming backgrounder
• Blog
Autism Multiplex Family Profile: The Hutchens Family
Three of the five Hutchens children have idiopathic autism.
Joan Hutchens and her husband have five children, and live in Silicon Valley. Joan shares her story:
"Three of our five children are autistic, both of the boys and one of the three girls. Neither my husband or myself have any autism or developmental disabilities up our family trees, and my pregnancies were normal without any known risk factors. Why we would end up with three children with autism was a profound mystery to everyone.
"I was born in Los Angeles in August 1965 at Cedars of Lebanon Hospital. Years ago, my mother told me that during her pregnancy with me her doctor had regularly injected her with drugs that he thought could help prevent miscarriage. My mother had a small frame and the pregnancy was considered 'at-risk' for that simple, if nutty, reason.
"Though we could not locate my mom's 1964-65 medical records, based on the common medical practice at the time, those drugs were almost certainly synthetic steroid hormones, such as fake progesterones and estrogens, which were used prolifically in obstetrics of that era.
"My friend Jill Escher, of the Escher Fund for Autism, and mom to two kids with equally mysterious autism, was born one month after me at the same Los Angeles hospital. Unlike me, though, she was successful in obtaining records of the multiple synthetic steroid drugs to which she was prenatally exposed. These drugs were very powerful, and operate by altering gene expression and function.
"People always tell me that my kids' autism must be 'genetic,' since I have three of them, but how could that be when we have no history of this or related disorders in our families? I find it much more plausible that my prenatal drug exposures damaged my eggs, inducing scattershot 'de novo' alterations.
"Given the enormous surge in autism cases, I don't understand why the germline disruption hypothesis is not the focal point for autism research today. We must stop analyzing so-called autism genes as if they have no exposure history."
[Joan Hutchens is a pseudonym, used to protect her children's privacy. For any inquiries, she can be contacted through the Escher Fund for Autism.]
New $25k RFP due June 30, 2015: Parental Germline Exposures in the Histories of Autism Multiplex Families
Autism is highly heritable without being "genetic" in the classic sense, and its rates are skyrocketing, up 28-fold in California's DDS system since 1987. We hypothesize that a subset of ASDs arise from induced epigenomic and/or genomic disruptions of parental germline during the vulnerable phase of fetal germline synthesis. This new RFP asks investigators to look at F2 ASD multiplex families to probe this idea, with an emphasis on ascertainment of F1 in utero pharmaceutical and other acute exposures in the 1950s, 60s, and 70s. RFP details can be found at:
germlineexposures.org/grants.
New Q&A: Virender Rehan of UCLA Demonstrates Adverse Germline Effects of Maternal Smoking
Our latest Expert Interview features the esteemed Virender Rehan, MD, chief of Neonatology, professor of Pediatrics, and director, Neonatal Intensive Care at Harbor-UCLA. He earned widespread media attention last year for his groundbreaking research showing adverse multigenerational (germline) effects of maternal smoking in animal models. Read the interview here.
Other recent Expert Interviews:
• Carmen Marsit, PhD, Dartmouth (fetal origins of disease)
• Christopher Gregg, PhD, University of Utah (genomic imprinting, and role in regulation of brain development)
• Andrea Baccarelli, PhD, Harvard University (public health implications of epigenetics)
• Marisa Bartolomei, PhD, University of Pennsylvania (epigenetic effects as assisted fertility technologies)
• Eileen McLaughlin, PhD, University of Newcastle (maternal smoking causes permanent impairments to fetal sperm)
See all interviews
Two New Studies Add to Plausible Role for Germline Epigenetic Disruption in the Etiology of Autism
• Sperm with specific epigenetic tags linked with autism (A. Feinberg and M. Fallin, Johns Hopkins). "In this study, investigators looked for possible causes for the condition not in genes themselves, but in the "epigenetic tags" that help regulate genes' activity." See news here
• Clinical variability in autism not linked to genes: “This might suggest that some of the clinical variability in autism arises from causes other than genetic vulnerability, such as epigenetic changes or other responses to the environment.” (B. Devlin and others). See news here
Reminder: Mini-grants Available, No Deadline
Mini-grants in the $250-$5,000 range are available on a rolling basis to support meetings, papers, or other work related to investigations of the induced germline disruption hypothesis of autism. Simply email us with your inquiry.
---------------------------
The Escher Fund for Autism supports projects that investigate the role of de novo germline perturbation in the etiology of autism and related disorders.
Learn more at our website, GermlineExposures.org
Email: jill.escher@gmail.com
Learn Jill's story: http://www.germlineexposures.org/jill-escher-qa.html
Read about California's soaring rates of severe forms of autism, in a new report called Autism Rising
Joan Hutchens and her husband have five children, and live in Silicon Valley. Joan shares her story:
"Three of our five children are autistic, both of the boys and one of the three girls. Neither my husband or myself have any autism or developmental disabilities up our family trees, and my pregnancies were normal without any known risk factors. Why we would end up with three children with autism was a profound mystery to everyone.
"I was born in Los Angeles in August 1965 at Cedars of Lebanon Hospital. Years ago, my mother told me that during her pregnancy with me her doctor had regularly injected her with drugs that he thought could help prevent miscarriage. My mother had a small frame and the pregnancy was considered 'at-risk' for that simple, if nutty, reason.
"Though we could not locate my mom's 1964-65 medical records, based on the common medical practice at the time, those drugs were almost certainly synthetic steroid hormones, such as fake progesterones and estrogens, which were used prolifically in obstetrics of that era.
"My friend Jill Escher, of the Escher Fund for Autism, and mom to two kids with equally mysterious autism, was born one month after me at the same Los Angeles hospital. Unlike me, though, she was successful in obtaining records of the multiple synthetic steroid drugs to which she was prenatally exposed. These drugs were very powerful, and operate by altering gene expression and function.
"People always tell me that my kids' autism must be 'genetic,' since I have three of them, but how could that be when we have no history of this or related disorders in our families? I find it much more plausible that my prenatal drug exposures damaged my eggs, inducing scattershot 'de novo' alterations.
"Given the enormous surge in autism cases, I don't understand why the germline disruption hypothesis is not the focal point for autism research today. We must stop analyzing so-called autism genes as if they have no exposure history."
[Joan Hutchens is a pseudonym, used to protect her children's privacy. For any inquiries, she can be contacted through the Escher Fund for Autism.]
New $25k RFP due June 30, 2015: Parental Germline Exposures in the Histories of Autism Multiplex Families
Autism is highly heritable without being "genetic" in the classic sense, and its rates are skyrocketing, up 28-fold in California's DDS system since 1987. We hypothesize that a subset of ASDs arise from induced epigenomic and/or genomic disruptions of parental germline during the vulnerable phase of fetal germline synthesis. This new RFP asks investigators to look at F2 ASD multiplex families to probe this idea, with an emphasis on ascertainment of F1 in utero pharmaceutical and other acute exposures in the 1950s, 60s, and 70s. RFP details can be found at:
germlineexposures.org/grants.
New Q&A: Virender Rehan of UCLA Demonstrates Adverse Germline Effects of Maternal Smoking
Our latest Expert Interview features the esteemed Virender Rehan, MD, chief of Neonatology, professor of Pediatrics, and director, Neonatal Intensive Care at Harbor-UCLA. He earned widespread media attention last year for his groundbreaking research showing adverse multigenerational (germline) effects of maternal smoking in animal models. Read the interview here.
Other recent Expert Interviews:
• Carmen Marsit, PhD, Dartmouth (fetal origins of disease)
• Christopher Gregg, PhD, University of Utah (genomic imprinting, and role in regulation of brain development)
• Andrea Baccarelli, PhD, Harvard University (public health implications of epigenetics)
• Marisa Bartolomei, PhD, University of Pennsylvania (epigenetic effects as assisted fertility technologies)
• Eileen McLaughlin, PhD, University of Newcastle (maternal smoking causes permanent impairments to fetal sperm)
See all interviews
Two New Studies Add to Plausible Role for Germline Epigenetic Disruption in the Etiology of Autism
• Sperm with specific epigenetic tags linked with autism (A. Feinberg and M. Fallin, Johns Hopkins). "In this study, investigators looked for possible causes for the condition not in genes themselves, but in the "epigenetic tags" that help regulate genes' activity." See news here
• Clinical variability in autism not linked to genes: “This might suggest that some of the clinical variability in autism arises from causes other than genetic vulnerability, such as epigenetic changes or other responses to the environment.” (B. Devlin and others). See news here
Reminder: Mini-grants Available, No Deadline
Mini-grants in the $250-$5,000 range are available on a rolling basis to support meetings, papers, or other work related to investigations of the induced germline disruption hypothesis of autism. Simply email us with your inquiry.
---------------------------
The Escher Fund for Autism supports projects that investigate the role of de novo germline perturbation in the etiology of autism and related disorders.
Learn more at our website, GermlineExposures.org
Email: jill.escher@gmail.com
Learn Jill's story: http://www.germlineexposures.org/jill-escher-qa.html
Read about California's soaring rates of severe forms of autism, in a new report called Autism Rising