Accelerating results

The Autism Consortium is a scientific and clinical collaboration that includes 14 Boston area institutions, supported by a non-profit that is dedicated to facilitating and funding research and clinical care. The Consortium’s mission is to support a disease-based collaboration dedicated to rapidly advancing the understanding, diagnosis, and treatment of autism through collaborative research to improve the care of children and families affected by autism and related disorders. 

The Consortium includes over 60 scientists, clinicians and other providers from these Boston area institutions who have worked for two years to create an interdisciplinary and inter-institutional model of collaboration to support common research protocols, leverage and maximize full utilization of core facilities, eliminate duplication of research efforts, establish research and clinical priorities to improve care, and enroll more families and patients into research projects - all with a full commitment to open data-sharing and mutual trust.  The research and clinical agenda established by Autism Consortium’s Research and Clinical Steering Committee, led by James Gusella, PhD, is the result of numerous working groups focused on the cycle of research, including:  
 

  1. Clinical Genetics: to promote routine standards for genetic testing and enhance appropriate recruitment of children and families into research studies.

  2. Phenotyping:  to improve diagnostic tools and improve understanding of the relationship between individual phenotype, underlying genotype and environmental factors.

  3. Gene Mapping:  to discover common, low-penetrance genetic variations contributing to autism as well as rare, highly penetrant mutations and genes that modify the penetrance and expression of autism; additionally, to explore the genotype-phenotype relationships of identified genes and the interaction of individual genetic factors with potential environmental influences.

  4. Mechanisms and Models:  to use chemistry, cell-based strategies, and genetic animal models to identify the mechanisms and pathways responsible for the development of autism, and to determine the relevance of each model system to human disease, developing novel therapeutics appropriate for clinical trials.

  5. Cognitive Neuroscience: to utilize brain imaging techniques (fMRI, MEG and ERP) to better understand brain circuitry and functioning, in particular how individuals with ASD process social-affective information.

  6. Informatics: to establish improved mechanisms for communication and effective sharing of data and biological resources among research groups; to develop new informatics tools to improve research and clinical care for children with autism and related disorders; and to establish resources that allow families, physicians, genetic counselors, resourse specialists and others to access acurate information on autism and related disorders.

The participating members of Autism Consortium provide multiple advantages in Boston that are unparalleled in any other area of the country. Within an easily manageable geographic region, we can integrate cutting edge science and leading clinical medicine, with access to and a continuing relationship with a large and cooperative patient and family population across multiple clinical sites in the city, critical to solving the full complexity of this disorder. We actively promote teamwork and collaboration across disciplines and institutions through trust, sharing and cooperation in data collection, and communication.  We can coordinate our efforts, with an emphasis on speed and cost-efficiency. Finally, our focus from start to finish is on the patient and family. We endeavor to see our discoveries translated into improved treatments for children with autism in the very near future.