During the first week of May, the city of Boston hosted over 700 autism researchers for the fourth annual International Meeting for Autism Research (IMFAR). Launched in 2001 as a collaborative effort by Cure Autism Now, the U.C. Davis M.I.N.D. Institute, and the National Alliance for Autism Research, IMFAR is a unique scientific conference dedicated to sharing research on all aspects of the study of autism.
As any parent of an autistic child juggling too many priorities knows, the challenge of autism is multi-faceted. IMFAR promotes the opportunity for integration in the field of autism, where bench scientists, clinicians and educators from a variety of disciplines convene to learn more about other aspects of study that may be related and relevant to their research and the collective understanding of this complex disorder.
"A critical mass of scientists and the new tools of molecular biology are deepening our understanding of autism at a breathtaking pace," said Helen Tager-Flusberg, chair of the conference and a professor at the Boston University School of Medicine.
Sophia Colamarino, Cure Autism Now Science Director, felt especially encouraged by broader lines of inquiry, such as immune and environmental exposures, being vigorously pursued. "Researchers are widening their study of autism. For instance, one key theme to emerge from the conference was the potential interplay between environmental and genetic factors. Scientists are starting to put all the pieces together."
Opening day of the conference featured Cure Autism Now Scientific Advisory Board (SAB) member Geraldine Dawson, Ph.D., as the keynote speaker, addressing how advances in understanding brain dysfunctions in autism are aiding in the ability to diagnose and intervene earlier and more specifically.
The conference also featured three symposiums, discussing:
- Co-occurring conditions, highlighting the need to carefully evaluate and treat each autistic patient according to his individual symptoms--looking for genetic disorders such as Fragile X and Tuberous Sclerosis, and treating related medical issues such as sleep, gastrointestinal and metabolic disturbances, as well as psychiatric co-morbidities, such as attention deficit, anxiety, and bipolar disorders.
- Communication issues, including profiles of toddler communication in autism, treatment efficacy and understanding communicative intent.
- Environmental influences, looking into molecular and inflammatory mechanisms and the potential for discovering environmental risk factors. This area of research is gaining increased attention, as the acceptance of autism as a predominantly-genetic disorder is evolving into a theory of autism development as potentially the result of a "double-hit", or a genetic susceptibility coupled with environmental triggers.
Presented in a multitude of concurrent presentations and poster sessions over the three days, more than 350 abstracts outlined advances in autism research by scientists from all over the world. Encompassing a broad range of subject areas, the presentations and posters ranged from basic science and brain structure, education, behavior and social issues, to genetics and environmental influences.
Some of the exciting findings presented this year addressed key issues in the following areas:
- Early detection, including verification of the ability to accurately diagnose autism as early as 14-18 months of age and preliminary discoveries of possible biological markers in the blood (biomarkers)by CAN SAB member, David Amaral, Ph.D. of U.C. Davis.
- Immune system abnormalities, namely evidence of an altered cytokine response to bacterial antigens and support for further investigation of the role of the immune system in autism.
- Environmental influences, especially in light of a study involving the laboratory of CAN Genius Award recipient, Michael Merzenich (UCSF), which found that rats exposed to polychlorinated biphenyls (PCBs) showed disturbances in the development of the brain's auditory cortex without affecting hearing, a defect that would almost certainly disturb language development in humans. CAN Innovator Award recipient Martha Herbert, M.D., Ph.D. (Mass General Hospital) and colleagues also showed an overlap between environmentally responsive genes and genes associated with autism.
- Genetic research in autism is expanding, as it is now accepted that autism genetics are broad, complex (current estimates are 5 to 20 genes involved) and in some cases probably related to susceptibility to environmental influences rather than direct causality. Researchers are now evaluating isolated behavioral and biological traits (endophenotypes), and using these to study family members for evidence of the broader phenotype and to help pinpoint what those genetic susceptibilities may be. A study by AGRE Chief Scientific Advisor, Dan Geschwind, M.D. and colleagues validated the importance of endophenotypes in the AGRE database using the Social Responsiveness Scale (SRS). The SRS was used to identify subtle traits in parents and unaffected siblings that are related to autism. Tracking those traits in families and studying DNA has led them to identify regions on chromosomes 11 and 20 that may be related to autism. "Autism is not an all or none phenomenon," said Clara LaJonchere, Ph.D., AGRE Program Director, "and it's important to understand the sub-threshold characteristics of the disorder, such as language delay and social impairment, that may be present in unaffected family members. These latent traits may better typify the disorder and might give researchers a better understanding of the clinical and genetic landscape." Geschwind points to the promise of this line of investigation. "As we identify endophenotypes and their related genes, such as for language delay, we will be homing in on genes for autism. This is one of the most exciting developments in the field of autism genetics today."
Cure Autism Now also actively participated in the exchange of information by organizing a special breakfast session highlighting the recent and rapid advances in potential therapeutics for Fragile X, a co-occurring genetic disorder. In a short time, the field of Fragile X research has moved from trying to understand the disorder's complicated behavioral patterns, to a plausible molecular mechanism (over-activity of a particular type of glutamate receptor), to the potential of therapeutic intervention (antagonists against those receptors). At our request, several prestigious neuroscientists from outside the field of autism, Drs. Mark Bear, Tom Jongens, and Bob Wong, presented their data at this special "hot topics" meeting. The goal was to expose autism researchers to an example of a how taking a neurobiological approach to understanding underlying mechanisms at the cellular and molecular level has proven successful in another complicated developmental disorder. More directly, the developing link between autism and Fragile X may provide autism researchers with a window to understanding the pathology of autism. As Dr. Herbert states, "That level of discussion of mechanisms is what the autism field needs. This line of thinking is most promising, not only for understanding, but for identification of treatment targets. As a physician, this is something I need to keep uppermost in my mind." Dr. Colamarino was impressed by how well the session really highlighted that "genetics is not necessarily about assigning cause. Instead, the power of genetics is that it can directly link us to disrupted pathways, which, as this Fragile X symposium showed, is the most direct route to developing targeted treatments." Cure Autism Now is also a sponsor of a just-released NIH Program Announcement calling for research into the intersection between Autism and Fragile X biology. This announcement is to actively solicit research that covers everything from basic research up through clinical trials. Details of the announcement can be found at http://grants.nih.gov/grants/guide/pa-files/PA-05-108.html
Cure Autism Now is pleased to offer continued sponsorship of IMFAR as a critical contribution to autism research, and to actively promote integrated thinking and cross-fertilization across research disciplines and fields. IMFAR is now organized by the International Society for Autism Research, a new professional society that emerged as a result of the conference.
To learn more about IMFAR, and to read the abstracts that were presented at the conference, please visit