5th Year for Autism Consortium

It has been five years since we gathered in Boston to launch the Autism Consortium.  As we look back over the last five years, we are encouraged by the major changes that have occurred in the clinical and scientific field, nationally and in the Greater Boston area.  And, as we plan for our immediate future, we are fortunate to now have Pharma as a new and engaged partner here in Boston.

As founding board members, we write today to update you on the progress of our unique collaboration, the grants we've made, the partnerships that have been forged and the contributions we hope we can continue to make to the field.  We share this report with heartfelt thanks for all your support (be it fiscal or simply in thought), and with pride and enthusiasm for your continuing contributions to the advancement of the clinical and scientific efforts for the treatment and ultimate cure for Autism Spectrum Disorders. 

To support multi-discipline and multi-institutional collaboration, the Consortium works to provide a framework for regular meetings and discussion, among different groups of scientists and clinicians who come together to discuss their work in autism, share knowledge and ideas to improve care and treatment, assess and plan for new research, and most importantly, collaborate across institutions and disciplines.  Many new scientists have been attracted into the field to apply their expertise to the complex challenges of understanding Autism Spectrum Disorders (ASDs).  Other regions of the country are mirroring our Consortium, notably the Southeast, to create the same dynamic of intellectual collaboration.

To support families, we established a network of five hospital sites:  Children's Hospital Boston, Lurie Family Autism Center/LADDERS (MGH), The Floating Hospital for Children at Tufts Medical Center, Boston Medical Center and UMass Medical Center.

• We created and funded a team of Autism Resource Specialists and placed one in each of the five clinics, which has facilitated delivery of a higher quality of care, allowed clinicians to see more patients, and helped reduce waiting lists. To date, the team has had 23,000 contacts with 4,500 families. 
• The specialists connect newly diagnosed families directly to a wealth of resources tailored to meet their needs, including a comprehensive Parent Information Packet, translated into six languages, access to a searchable on-line Resource database where they can identify services throughout the state, and access to an online calendar of events including workshops and conferences.
• We developed a very successful parent education series for underserved and minority populations entitled "Everyday Behaviors and Solutions" which is coordinated with our affiliated clinics and community partners.
• To fill a deeply needed resource, we created a manual titled Transitioning Teens with Autism Spectrum Disorders: Resources and Timeline Planning for Adult Living.
• On behalf of their patients, our clinicians collaborated across their institutions and worked with many other groups to successfully advocate for enactment of an insurance mandate to require insurance coverage for autism diagnosis and treatment in Massachusetts.

To communicate the importance of research and recruit families, we established a coordinated team of genetic counselors within each hospital/clinical site to work with clinicians and families to enhance participation in research studies.  We established a steadfast presence at autism community events in order to recruit and widely convey the message about the importance of being involved in research.  Last, we regularly use our networks and website to make research opportunities known to the community.

• Over 925 families were recruited and enrolled in our two studies in less than four years.  Many of these families have agreed to be re-contacted for future studies. 
• Our first study, which included over 500 local families, established a new standard of care for genetic testing for autism.  The study demonstrated that for patients with autism spectrum disorders, chromosomal microarray analysis (CMA) is better able to identify genetic abnormalities than other clinically available genetic tests, and therefore should be part of the initial evaluation for patients with ASDs.  These results were published in the journal Pediatrics, March 2010, volume 125. 
• A second study was initiated to increase understanding of the many subtypes of autism, by collecting biological samples and extensive phenotype data on affected individuals and families.  In three years, teams at Massachusetts General Hospital and Children's Hospital Boston collected extensive phenotype information on over 425 families.  Families were provided an extensive feedback report for their own use in individual education planning and for working with neuropsychologists and other medical professionals.
• We have established a local repository of over 1,500 biological samples and associated phenotype data to encourage and facilitate research among all Consortium members and contributed to the national repository of biological samples and data at the NIMH.  Sharing these samples facilitates research in the broader autism research community.

To hasten scientific understanding about the genes responsible for autism, the mechanisms involved and the neurological causes, different cross-institutional groups of scientists and researchers have met regularly to share work in progress.

• Working collaboratively the gene finding researchers have identified several genetic mutations associated with autism spectrum disorders.  In 2008, they identified a missing or duplicated piece of chromosome 16 containing 25 genes, a chromosome not previously associated with ASDs.  The micro-deletion/duplication in chromosome 16 makes an individual 100 times more likely to have an ASD.
• Building on the genetic finding on chromosome 16, researchers who are working on various cell based strategies and animal models have begun to elucidate the role of the 25 genes in the 16p11.2 region in the pathways that lead to autism spectrum disorders.
• Scientists with expertise in neuro-imaging, designed and executed a first-of-its-kind multimodal imaging study using fMRI, ERP and MEG at three collaborating institutions: MIT, Children's Hospital Boston and Massachusetts General Hospital.  The results of this study will contribute to understanding the underlying neurological causes of autism.
• Several of the researchers are involved in the development of new treatments for Autism Spectrum Disorders that are in clinical trials.  These include therapeutics for Fragile X, Rett Syndrome and Tuberous Sclerosis Complex.

The future of the Autism Consortium is clearly rooted in the pursuit of autism therapeutics.  This is the next frontier where we will seek to leverage collaboration between our current constituencies of scientists, clinicians, funders and families, with the pharmaceutical industry.  Our 2010 Fall Symposium kicked off the new initiative with a talk by Robert Ring of Pfizer and included a roundtable discussion among the Consortium Board and pharmaceutical company representatives.  With feedback from interested firms, the Consortium will be hosting a series of precompetitive meetings to set priorities toward impacting autism, establish consensus on clinical targets, work with  academia to address  the challenges for pharma and explore new models for working together.  Through these meetings we also intend to elucidate the regulatory process and explore best practices in clinical trials that can be applied to autism.

We encourage your feedback on our progress to date and hope you will provide input on our future direction.  We welcome your involvement.

Sincerely,

Peter Barrett, President

Alan Crane, Vice President

Paul Marcus, Treasurer 

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