Accomplishments

Created an innovative Family Resource and Support Program to Enhance Patient Care:

Patients and clinics are already benefiting from our Family Resource and Support Program. Each hospital in our network has a team including a clinician, an Autism Resource Specialist and a Genetic Counselor.

Autism Resource Specialists meet with families to provide support as well as connect them to resources and services                                                                    

• Genetic Counselors can help interested families enroll in research studies and explain genetic testing and results
  
• Clinicians report that they are able to see more patients and provide higher quality care, due to the Autism Consortium team at each hospital

Autism Resource Specialists and clinicians have developed a folder of information for all families seen in our clinical network, including a Parent Information Packet of valuable local and national resources. We have also developed a database of services and programs in Massachusetts and surrounding states that Autism Resource Specialists and clinicians can utilize to provide reliable and comprehensive information to families.   

Our Genetic Counselors help interested families enroll in research studies. The first study, underway since March 2007, provides clinical genetic testing (karyotype, Fragile X and chromosomal microarray) to patients. In instances where a genetic abnormality is found, the test results can help the family understand the nature of the ASD, and in some cases can help inform parents of the likelihood of recurrence in future pregnancies. The results also help researchers hone in on additional genes that may be involved.  A second study has just begun to carefully phenotype patients and families in order to identify and better understand the subsets of ASDs and associated genes.   

Initiated Novel Approaches to Find New Genes:

In 85-90% of cases, the genes involved in ASDs remain unknown.  The Autism Consortium has completed our Autism Genome Scan, an intensive scan of the 3,000 individuals (those with ASDs and family members from the AGRE repository) using the new Affymetrix GeneCHip Human Mapping 500K array. 

Analysis revealed a region on chromosome 16, both a deletion and duplication, to be associated with ASDs in approximately 1% of cases.

• By collaborating with Children's Hospital, the research team was able to immediately verify clinical significance through analysis of over 500 clinical chromosomal microarray tests of patients referred for an indication of ASD or developmental delay.
  
• Data from the Autism Genome Scan were released publicly in November 2007 so that researchers outside of the Autism Consortium would have an opportunity to analyze the data alongside our researchers- with the goal of speeding the analysis to find new genes quicker.

Understanding Individual ASDs in Order to Link Genes to Traits: 

The Autism Consortium has begun to phenotype individuals with ASDs and their families in an effort to identify more distinctive subsets. Our phenotyping team has designed an extensive battery of measures and questionnaires, and begun to collect data to link genetic variation with different characteristics of ASDs.  After undergoing a battery of assessments, families receive a valuable research report about the strengths and weaknesses of the individual affected with an ASD.

Developing Mouse Models of ASDs to Identify Therapeutic Targets: 

Genetically inbred mice which are designed to carry genes that mimic human disorders are a vital part of ASD research. These mouse models can be utilized to find and test potential treatments for ASDs. Based on a mouse model of Rett syndrome, with features of ASD, we will be testing a compound that causes a reversal of Rett syndrome in mice. This compound has great promise for working in humans as well and we will be beginning clinical trials with patients by the end of 2008.