While researchers have begun to unravel some of the mysteries of autism spectrum disorder (ASD), there are still many unknowns about what causes the condition, why it presents differently in different people, and what therapies will be the most effective for which patients.

To help answer those questions, the research team at the Lurie Center for Autism is hoping to increase the number of people with ASD who chose to enroll in the Mass General Brigham (MGB) Biobank.

The MGB Biobank is a large research initiative designed to help researchers understand how health is affected by genes, lifestyle, and environment.

The Biobank’s goal is to accelerate the pace of research by making samples from thousands of diverse participants readily available to researchers, thus saving the time and effort it would take to recruit patients into individual studies.

Over 135,000 people have joined the Biobank since its launch in 2009, and their samples and data have supported over 450 studies to date. However, the Biobank has fewer than 100 samples from individuals with ASD, which limits the type of research that can be done and slows the pace of discovery.

Increasing the number of samples in the biobank from patients with ASD and their family members, could help Lurie Center researchers—as well as investigators throughout Mass General Brigham—learn more about the biological characteristics of ASD and what treatments may be the most effective for which subtypes of patients.  

Participating in the Mass General Brigham Biobank

Participation in the MGB Biobank involves three steps:

● Providing consent by meeting with a research coordinator

● Completing a health information survey

● Contributing a blood sample that is linked to an electronic health record

The Lurie Center for Autism — a Center devoted to care of people with ASD, along with multi-disciplinary research and education —is well positioned to connect individuals with ASD to the Biobank.

The Lurie Center sees thousands of ASD patients each year. When patients visit, they will be given the opportunity to contribute a blood sample to the Biobank.

In addition, people who are not patients of the Lurie Center and relatives of patients with ASD can also contact the research team to participate (see below).

The nurses and staff at the Lurie Center have significant experience with ASD patients, many of whom have a difficult time tolerating the sensations of a blood draw.  

Staff can help participants feel safe and comfortable, which may help patients tolerate the procedure again in the future when the medical need arises.

How More Research Could Help

With the rates of children diagnosed with ASD increasing nationwide (now at 1:36) and a growing demand for ASD services across the lifespan, it is crucial to identify new strategies for effective treatment and for understanding the underlying biology. 

For example, there are many competing hypotheses about what gives rise to ASD, including:

● Immunological challenges such as viral infections in utero and shortly after birth

● Alterations in the serotonergic system

● Imbalances in excitatory/inhibitory signaling

Another significant challenge to understanding ASD is that it presents in different ways—the constellation of symptoms and behaviors can vary significantly and range from mild to severe.

These differences have led many to believe that there are likely different subtypes currently grouped under the umbrella of ASD, explains Kelly Dakin, PhD, Associate Scientific Director at the Lurie Center.  

With additional research, including studying blood samples, it may be possible to stratify ASD patients into useful subgroups, as well as to design better treatment trials and predict which therapeutics may be effective for which patients.

“There are all kinds of things that you can measure in the blood, such as proteins, lipids, cytokines, metabolites and DNA,” explains Dakin. “All that together along with information about family health history and clinical features makes for a really strong data set.” In this way, patients and families truly become research partners.

“The Lurie Center’s connections within the Mass General Brigham system open up all kinds of new possibilities for collaboration,” Dakin says. “We have faculty from psychiatry, GI, pediatrics, neurology and sleep who are interested in understanding ASD better. I could imagine researchers coming at this from all kinds of angles if we make the data and samples readily available.”

Dakin says there is a particular interest in studying immune proteins and cytokines in the blood, given that one hypothesis suggests an underlying immune dysregulation in some individuals with ASD.

For example, Michael Levy, MD, PhD, a neuroimmunologist at Mass General, is launching a new biomarker study in autism to look for evidence of immunologic involvement in autistic people and/or their mothers.

Levy was the first to identify a need for more representation from ASD individuals in the Biobank, which helped to launch the current recruitment effort.

“Blood sample collection is not sufficient on its own,” Levy explains. “Samples have to be linked to high quality clinical data so that we can understand the full context of any possible findings.

The Lurie Center and the Mass General Brigham Biobank have the resources and expertise to create this repository, which is critical for our biomarker study and will likely also serve many other projects in the future.”

For additional information on the ASD biobank project or how to participate, please contact the Lurie Center research staff at 781-860-1711 or LurieCenterResearch@Partners.org.

About the Mass General Research Institute
Research at Massachusetts General Hospital is interwoven through more than 30 different departments, centers and institutes. Our research includes fundamental, lab-based science; clinical trials to test new drugs, devices and diagnostic tools; and community and population-based research to improve health outcomes across populations and eliminate disparities in care.
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