International Meeting for Autism Research: Web Application for Genetic and Phenotypic Data From Families with Autism Spectrum Disorders to Support Multidisciplinary Research

Web Application for Genetic and Phenotypic Data From Families with Autism Spectrum Disorders to Support Multidisciplinary Research

Friday, May 13, 2011
Elizabeth Ballroom E-F and Lirenta Foyer Level 2 (Manchester Grand Hyatt)
10:00 AM
S. Wang1, R. Sasanfar2,3, J. O'Rourke1, J. Teraiya1, S. Koduru1 and D. L. Pauls4, (1)Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, (2) Psychiatric and Neurodevelopmental Genetic Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, (3)Department of Psychiatry, Harvard Medical School, Boston, MA, (4)Massachusetts General Hospital, Boston, MA, United States
Background: The current landscape in the research of Autism Spectrum Disorders (ASD) is becoming increasingly diverse, and there has been a shift to encourage and emphasize collaboration from multidisciplinary researchers to accelerate progress in understanding ASD. The informatics team at the Massachusetts General Hospital is aiding multidisciplinary researchers by creating a platform through which users can query phenotypic data and genetic information collected by studies conducted under the auspices of the Autism Consortium in Boston.

Objectives: The informatics team’s objective is first and foremost to aid multidisciplinary researchers in conducting novel and varied research. In order to achieve this goal, the focus has been to: 1) ensure quality of data and provide necessary metadata (data about data) taken from experts in the field, 2) create a user interface for ease of access to the data and 3) facilitate data querying by implementing search and filter capabilities.

Methods: Both phenotypic and genetic data are collected by members of the Autism Consortium from six research institutions, and the data encompass over 500 ASD families. Phenotypic data consists of over 40 validated and widely used instruments which are collected from all family members. These instruments span multiple domains of research: e.g. autism diagnosis (Autism Diagnostic Interview-Revised), cognitive abilities (Wechsler measures), executive functioning (Brief Rating Inventory of Executive Function), life skills (Vineland Adaptive Behavior Scales), the broader autism spectrum (Broader Phenotype Autism Symptom Scale) and medical history. Data is not only looked at microscopically but also macroscopically.  Each data point is checked for accuracy, but each data point within a given instrument and each instrument within a categorical domain is explained, and additional information, or metadata, are provided to aid researchers in understanding the data. The data itself is expanded to include additional scores or data values from recent autism research. In this way the data is also able to build upon previous research findings. A web-based application has been created to give access to approved researchers to query and download the data. The application has been enhanced to not only allow downloading, but also to filter data by various criteria, download data into various formats, and save past queries for future sessions.

Results: Data have been collected from over 1400 individuals, and that number is continuing to increase. Thus, each individual accounts for thousands of data points in addition to his or her genetic information. Researchers can submit a proposal to have access to this improved, enhanced, and enriched data through the Autism Consortium’s standard policy for research.

Conclusions: Access to data for multidisciplinary research will be the key to furthering the progress already being made in understanding the pathology of ASD. Data access and availability, an extensive breadth of information, and essential metadata will allow researchers of varying expertise to bring forth new information that will be integral to the diagnosis and treatment of ASD.


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