Environmental Factors and Epigenetics

Autism is usually described in terms of behaviors, such as abnormal and repetitive movements, difficulties in producing speech, and other manifestations of impaired executive planning and motor control. These behaviors are thought to reflect underlying disconnections in the nervous system.

The causes of autism are obscure. Twin studies suggest a genetic component, thought to occur in two varieties, hereditary and ‘sporadic’ (arising in the germ line), but not with 100% phenotypic concordance for monozygous twins. Autism appears to be on the increase and affects males much commonly more than females. It is highly heterogeneous with seemingly large differences in language ability, immunological robustness, motor planning, gastro-intestinal dysfunction, and artistic and social expressiveness. Fundamental developmental processes, perhaps impacted at different points of time and in different cell-types, appear to have gone awry, leaving not a diseased or degenerative state, but possibly a new kind of organizational condition that needs to be addressed with unique biomedical approaches.

There is growing awareness that even small amounts of organic compounds, used in packaging, pest control, cosmetics, and hundreds of other every day applications, might affect neural and reproductive development. However, even if true, establishing any or several of these as proximal causes seems, at best, remote, especially on a case-by-case basis  with a highly diverse population. The explosive growth in our knowledge of chromatin remodeling and its central importance for understanding cell fate determination, as well as the development of high density platforms for mapping epigenetic marks, opens up the possibility of using cohorts of identical twins with autism to correlate differences in these marks with finer phenotypic variation.

Matthew Anderson, MD, Ph.D., Beth Israel Deaconess Medical Center

Epigenomic Approaches to the Interplay of Genetics and Epigenetics 
Andrew Chess, MD, Massachusetts General Hospital

Katie Clapham

Michael Coulter

Al Galaburda, MD, Beth Israel Deaconess Medical Center

Matthew Goodwin, Ph.D., MIT Media Lab

Novel Designs to Study the Impact of Environmental Exposures on Pregnancy: Case Example of Bisphenol A
Russ Hauser, Sc.D., MD, Harvard School of Public Health

Martha Herbert, MD, Ph.D., Massachusetts General Hospital

Tal Kenet, Ph.D., Massachusetts General Hospital

Minding the Ca2+ store:  Gene x Environment Interactions Relevant to Autism and Related Neurodevelopmental Disorders 
Isaac N. Pessah, Ph.D., UC Davis/MIND Institute

T.C. Theoharides, Ph.D., M.D., Tufts University School of Medicine

Simple Biosensors to Detect Endocrine Active Compounds: Application to ASD Targets 
David Wood, Ph.D., Ohio State University

2009

The Nancy Lurie Marks Family Foundation, Wellesley , MA