Archived | Autism Speaks: The Power of AGRE: Families advancing autism research | Circa August 9, 2016 #NotAnAutisticAlly

Learn how the Autism Speaks Autism Genetic Research Exchange is powering research that’s improving healthcare for people with autism

By Autism Speaks science intern Isabel Josephs. Ms. Josephs is a junior at Cornell University, in Ithaca, New York.

Today I’d love to share a snapshot of what I’ve learned about the tremendous power of the Autism Speaks Autism Genetic Resource Exchange (AGRE).

Did you know that it’s one of the world’s largest databases of genetic and medical information on people with autism and their family members? 

More than 2,000 families have contributed genetic, medical and behavioral information to AGRE.

They’ve done so to enable researchers to use this information – in anonymous form – to deepen scientific understanding of autism and advance the development of treatments and support to help those on the autism spectrum.  

Research is expensive and time consuming. Working together, parents and scientists developed AGRE to speed autism research by providing a ready depository of information and biological materials. AGRE makes its resources available to qualified researchers worldwide. In return, researchers agree to share their data with the AGRE community. 

The “Autism Community” is not the Autistic Community | The Autism Community was created by non-Autistic led organizations and includes mostly parents, professionals and their friends. 
Most of what the world know about Autism is sourced from the non-autistic “Autism Community.”

AGRE’s large participant pool allows researchers to explore specific areas of research to improve lives across the diverse autism community. And it enables them to do so at a faster pace than if they had to collect the data themselves. I recently enjoyed speaking with Pat Levitt, chair of developmental neurogenetics at the Institute for the Developing Mind (Children’s Hospital Los Angeles). 

“AGRE was the first database to collect information on a neurodevelopmental disorder and provide the information to scientists around the world,” he told me.

“AGRE really kicked off the idea that if scientists were willing to share their data, it would strengthen numbers and benefit everyone.”

Autism Tissue Network (ATN) Autism Clinical Trials Network (ACTN) Autism Genetic Resource Exchange (AGRE) Autism Tissue Program (ATP)

Recently, Dr. Levitt led a research team that combined an analysis of AGRE data with information from the patient registry of the Autism Speaks Autism Treatment Network (ATN).

In the study, Patterns of Risk for Multiple Co-Occurring Medical Conditions Replicate across Distinct Cohorts of Children with Autism Spectrum Disorder, they linked distinct genetic changes with subtypes of autism associated with one or more of the medical conditions frequently affecting people with autism.

These medical issues included epilepsy, GI distress and disturbed sleep. 

 “AGRE absorbed the labor intensive and time-consuming features of studying multiple conditions in children with autism, and it made the research more cost-effective,” added study co-author Kimberly Aldinger, of the Seattle Children’s Research Institute. 

It’s hard to imagine being able to tackle such a broad investigation without AGRE. Its large database enabled the researchers to correlate in-depth genetic analysis with medical records and extensive behavioral testing in families with multiple siblings on the autism spectrum.

This allowed the researchers to study autism-related inheritance patterns. For instance, they found that GI disorders, seizures and sleep problems were significantly more common in children with autism than in their parents and siblings who weren’t on the spectrum. By contrast, disorders such as asthma and allergies were more-or-less equally common among children with autism and their parents and siblings. In other words, asthma and allergies appeared to run in families in a way that was not directly related to autism. By contrast, GI disorders, seizures and sleep problems were less likely to run in families – except in the presence of autism. 

Delving even deeper into the AGRE data, the researchers found that children who had autism and any one of these three medical problems were more likely to be affected by another or even all three of them. This finding translated into an important new guideline for doctors: To carefully screen for all three disorders when any one becomes apparent in a child who has autism.

 “It gives pediatricians a heads up for the kinds of things they should be looking for in a child. If the child has sleep issues, it’s worth checking for GI disorders,” Dr. Levitt said.  The study also found that the severity of behavioral issues increased with the number of medical conditions.

This powerfully supports advice coming out of the Autism Speaks ATN – that addressing GI or sleep issues in children with autism often brings marked improvement in behavior and daily function. Such insights are especially important for helping people whose autism limits their ability to communicate their physical distress and discomfort.  

To put it all together, AGRE enabled a single study to:

* Identify genetic changes associated with three medical conditions that tend to occur with autism

* Show that these three medical conditions frequently occur together and *

Associate these medical conditions with more-severe behavioral impairment.

 “Integrative care for medical issues along with autism symptoms has to become the standard for working with families that have a child who is on the spectrum,” Dr. Levitt said.

AGRE gave Drs. Levitt’s research team the power to improve this situation. 

We know that the autism spectrum is broad – with many subgroups and associated health and behavioral issues. The scientific community needs the breadth and depth of AGRE to address the needs of this diverse and wonderful community. 

I’m honored to be a small part of this effort through my Autism Speaks science department internship. We gratefully thank everyone who has contributed and helped make AGRE a reality. 

“Small acts, when multiplied by millions of people, can transform the world.” -Mother Theresa

The Autism Speaks blog features opinions from people throughout the autism community. Each blog represents the point of view of the author and does not necessarily reflect Autism Speaks’ beliefs or point of view.

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