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Systems Biology of Autism: Metabolomics

We know that autism is a complex and heterogeneous condition affecting the normal functioning of human physiology in a number of different ways that manifest themselves as movement difficulties, gastrointestinal dysfunction, and problems in communication. The condition originates in the course of development and is known to involve genetic factors. If the incidence of autism is on the rise, there is a strong likelihood that environmental (toxins) or other epigenetic (immunological) factors may play a role. A major hurdle in understanding the genetics of autism, and how combinations of genes expressed in different organs at different times could lead to autism, is that the standard definition of phenotype used in genetic studies is based on observed social and cognitive behaviors, rather than in terms of neurological or biochemical circuits.

Recent advances in mass spectroscopy and nuclear magnetic resonance have resulted in
commercially available instruments capable of measuring hundreds of metabolites simultaneously in bodily fluids (blood, urine, and CSF). The classical concept of ‘biomarker’, such as glucose levels in diabetes, or cholesterol levels in coronary heart disease, is being replaced by the idea of a ‘signature’, a combination of signals from many metabolites. Combined with sophisticated computer algorithms it is now becoming possible to interpret these signatures in terms of biochemical pathways, providing a powerful means of bridging phenotype and genotype. This new combination of tools and concepts has been termed ‘metabolomics’ and was the focus of a Boston Club held in March 2007.

The Autism Phenome Project
David Amaral, Ph.D., University of California Davis and The M.I.N.D. Institute

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

A Combined Multi-Omics and Exploratory Bioinformatics Approach to Investigate Disease Mechanisms in Complex Neuropsychiatric Disorders.
Sabine Bahn, MD, Ph.D., University of Cambridge

Susan Birren, Ph.D., Brandeis University

Challenges of Heterogeneity, Co-Morbidity and Non-Specificity in Autism Research and Treatment
Martha Herbert, M.D., Ph.D., Massachusetts General Hospital

Tal Kenet, Ph.D., Massachusetts General Hospital

Putting Genes in their Place
Stuart Newman, Ph.D., New York Medical College

Metabolomics and Top-Down Systems Biology: Practical 21st Century Approaches Attacking Real Human Disease Problems
Jeremy Nicholson, Ph.D., Imperial College London

Istvan Pelczer, Ph.D., Princeton University

Cellular Metabolomics
Josh Rabinowitz, MD, Ph.D., Princeton University


The Nancy Lurie Marks Family Foundation, Wellesley, MA