Autism Epigenetics News Updates from the Escher Fund for Autism, July 2015
A Father Prenatally Exposed to Synthetic Hormones, a Son with Idiopathic Severe Mental Illness and Autism: Is Germline Epimutation to Blame?
[See our blog for the story. The author is the father of a nine year-old boy with multiple mental and developmental disabilities. He lives in California.]
• Chrissy's prenatal drug exposure story: A Glut of Abnormal Neurodevelopment in One Family — Did Grandma's 1960s Pregnancy Drugs Cause Germline Errors?
• Joan's prenatal drug exposure story: A Mother of Three Children with Autism Speaks Out About Her Prenatal Exposure to Synthetic Steroid Hormone Drugs
• Jill's prenatal drug exposure story: A Generation of Drugged DNA?
$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 early 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, such as maternal smoking, in the 1950s, 60s, and 70s. RFP details can be found at: germlineexposures.org/grants.
New Papers in Cell Suggest Distinctive Epigenetic Treatment for Neurodevelopment Genes on Human Germline
It appears some areas of our DNA methylome are not entirely erased during gametogenesis. New research indicates that about five per cent of our genetic code carries molecular traces of past exposures, and may by leaving a devastating legacy for children and grandchildren.
Professor Azim Surani, from the Wellcome Trust/Cancer Research UK Gurdon Institute at the University of Cambridge, said: “The information needs to be reset in every generation before further information is added to regulate development of a newly fertilised egg. It’s like erasing a computer disk before you add new data."
But 5% of the genome are ‘escapee’ regions which contain some genes that are particularly active in neuronal cells, which may serve important functions during development.
Walfred Tang, a PhD student who is the first author on the study, said: “Our study has given us a good resource of potential candidates of regions of the genome where information is passed down not just to the next generation but potentially to future generations, too.”
See the paper in Cell: A unique gene regulatory network resets the human germline epigenome for development
Also published in Cell:
DNA Demethylation Dynamics in the Human Prenatal Germline
The Transcriptome and DNA Methylome Landscapes of Human Primordial Germ Cells
Worth a Watch: Epigenetics and Intergenerational Inheritance
Professor Marcus Pembrey (co-recipient of our recent grant on fetal germline effects of maternal smoking, with Professor Jean Golding) is featured in this new YouTube video, featuring Dr. Elizabeth Radford as well.
The Germline Disruption Hypothesis of Autism, in an Infographic
Reminder: Mini-grants Available, No Deadline
Mini-grants in the $250-$5,000 range are available on a rolling basis to support meetings, papers, research, 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.
Visit GermlineExposures.org for:
• Expert Q&As
• Germline epigenetics in the news
• Germline development and reprogramming backgrounder
Jill Escher, Escher Fund for Autism, is a California-based science philanthropist and mother of two children with severe autism, focused on the question of how environmentally induced germline disruptions may be contributing to today's epidemics of neurodevelopmental impairment. You can read about her discovery of her intensive prenatal exposure to synthetic hormone drugs here. Jill is also president of Autism Society San Francisco Bay Area.