Landmark research to identify the genes associated with autism is helping children and adults on the autism spectrum gain better understanding of their differences and their diagnosis.
海角原创 is part of an ongoing national called SPARK 鈥 which stands for Simons Foundation Powering Autism Research 鈥 that has been collecting and analyzing DNA samples from tens of thousands of adults and children with autism spectrum disorder. Now, families are learning what, if any, genetic connection has been found between their family member鈥檚 autism and their DNA samples.
For 15-year-old high school freshman Joshua Garibay and his parents, their DNA samples found a genetic marker that provided them with important information, including that Joshua鈥檚 autism wasn鈥檛 inherited from his parents and that, based on what鈥檚 known from others who have the same marker, he could be at risk for seizures.
鈥淚鈥檝e been able to connect the test results with some of what we鈥檝e learned in biology about brain cells and figure out that there鈥檚 a reason why I function differently than the average human being,鈥 he says. 鈥淚t's a challenge that I have to overcome each and every day, a challenge that I鈥檓 willing to take on.鈥
Autism spectrum disorder refers to a group of brain disorders characterized by difficulties with social interactions and restricted repetitive behaviors and interests. Spectrum refers to the wide range of symptoms and different levels of disability that autism causes.
Seeking causes of autism in tens of thousands of DNA samples
ASD, which has been identified in one of 54 children in the United States, is diagnosed and treated as a behavioral condition but is genetic in nature. Autism sometimes is passed on by a parent to a child, but it also can be related to a spontaneous (de novo) gene mutation that isn鈥檛 seen in the mother or father but affects a child鈥檚 brain development. Scientists believe both genetic and environmental factors are involved, but which factors remains a mystery they hope research will solve.
鈥淲e don鈥檛 really know what causes autism in most people,鈥 says psychologist , a member of Rush鈥檚 Autism Assessment, Research, Treatment and 海角原创 (AARTS) Center team and an assistant professor in 鈥淚t鈥檚 important to study, because if we can understand the underlying genetic causes or contributions, we can learn what the person might need across their lifetime.鈥
April is Autism Awareness Month, and this year it marks the fifth anniversary of SPARK, the largest study of autism, which began with a goal of collecting and analyzing DNA samples from 50,000 adults and children with ASD and their family members. So far, SPARK has sequenced DNA from 50,000 participants, including 23,000 people with autism, and Rush has collected 4,400 samples from participants.
Researchers expect to find a genetic difference linked to autism in about 10 percent of these DNA samples. More than 150 genes are strongly associated with autism, several dozen of which were discovered since the SPARK study began. Scientists suspect there could be hundreds more.
鈥淪PARK gives families very advanced genetic testing to explore the cause of their child鈥檚 autism, and it may find a genetic variation that led to their autism,鈥 says developmental-behavioral pediatrician , associate professor and chief of the Division of Developmental Behavioral Pediatrics in Rush鈥檚 . 鈥淭he hope is that in the not too distant future there will be treatments for some of these genetic causes of autism 鈥 treatment that is targeted to the brain of the individual patient.鈥
鈥業f you鈥檝e seen one person with autism, you鈥檝e seen only one person with autism鈥
鈥淎utism looks different from one person to another,鈥 Ochoa says. 鈥淚t is a brain-based condition, but it鈥檚 not something you can see on an MRI. It鈥檚 in the connections between neurons.鈥
Examining the similarities found between people who have a particular genetic mutation can yield useful information.
鈥淯nderstanding the genetic pathway can help streamline our understanding of how a particular family might manage autism,鈥 says psychologist Latha Soorya, PhD, director of the AARTS Center and an associate professor of psychiatry and behavioral sciences at Rush.
For example, parents may learn that their child鈥檚 genetic difference is associated with a heart or kidney condition or a risk of seizure, or a small facial feature, such as a wide-set eyes.
鈥淚n the future, as we understand more about the biology through studies like SPARK, we may be able to connect the genetics to the behavior,鈥 Soorya adds.
Searching for genetic links, opening door to more research
SPARK has a two-fold goal: To analyze the study鈥檚 genetic findings, and at the same time to connect families with other autism studies, giving them new opportunities and dramatically increasing the number of people who take part in ASD research.
鈥淲e have the potential to get away from one label for autism. To have different ways of identifying different forms of autism drives research like SPARK,鈥 Soorya says.
Families participating in SPARK receive initial findings and then annual follow-up results as more genetic markers are added to the list. If a relevant genetic marker is found, a genetic counselor contacts the family to share and explain the finding.
鈥淲e received information about things we can do to support Joshua and things to look out for, like absence seizures, which can be hard to notice,鈥 says Rebecca Garibay, Joshua鈥檚 mother. 鈥淗e is really smart, and so it鈥檚 always been confusing to him why he can鈥檛 always read people the way other people can. It's just nice to know there is a reason and what it is.鈥
How to enroll in the SPARK autism study
Rush continues to enroll families in SPARK, a process that can be done remotely using a mail-in kit. Any adult with autism or parent of a child with an autism diagnosis is invited to take part. There is no cost to participants, and the collected data is kept private.
To sign up for this study, go to . If you have any questions, please email spark@rush.edu. Rush also sponsors virtual and in-person opportunities where those interested can learn more about the study and enroll.
鈥淪omething I like to tell families is if you take part, yes, you can get something out of this,鈥 Ochoa says. 鈥淏ut also, you will be helping advance the understanding of the genetic causes of the disease, and that will lead to treatments for autism sooner.鈥
Educational event for parents and providers
Learn more about autism spectrum disorder, genetics and the SPARK research program at an upcoming virtual event featuring Dr. Cesar Ochoa-Lubinoff on Thursday, April 29, at at 5 p.m. Get details and registration info here.
