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‘It’s a very human condition’: Researchers seek answers to mystery of autism, in blood

Campaign aims to get more people with autism to provide blood samples for research

The Mass General Brigham Biobank receives some 12,000 tubes of blood a year, which are processed and stacked within frost-encrusted drawers inside 38 hulking freezers at the biobank’s headquarters in Cambridge.Jonathan Wiggs/Globe Staff

Dr. Jacob Hooker was stunned: There were only 45.

Among the 145,000 people who had agreed to provide blood for research at Mass General Brigham since it began collecting samples in 2010, only 45 had autism.

Hooker, scientific director of the Lurie Center for Autism at Massachusetts General Hospital, wants to identify subtypes of autism to better target research and treatment, but he couldn’t do much with so few samples. He fears that other scientists will also be discouraged.

“A lot of times scientists look where there’s opportunity,” he said. As long as the resources are so paltry, “we can’t attract the world’s talent to ask questions about autism.”

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For the sake of finding answers to those many questions, Hooker in May launched a campaign to encourage people with autism to contribute to the Mass General Brigham Biobank, a repository of blood samples donated for research.

Other academic medical centers have such biobanks, but MGB’s is among the largest. MGB patients agree to provide their blood, and researchers from throughout the MGB system can request data or samples to study any number of medical questions, such as how genetic and lifestyle factors affect obesity or the role of genes in prostate cancer.

But why were there so few samples from people with autism? “It’s kind of obvious, in hindsight,” Hooker said. Drawing blood can be challenging when the patient is hypersensitive to sound and touch and fearful of new environments, as is true for many people with autism.

He would need to change the way things are done at the Lurie Center, the largest autism research program in New England.

“We didn’t have a work flow that allowed for that,” he said. “We needed a system that would adapt to any scenario and that would allow the process to follow the patient, not the patient to be burdened by the process.”

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Now, patients sign consent forms that are valid at multiple locations within the MGB system. Then, whenever a blood test is needed, the phlebotomist will also collect extra tubes for the biobank. “We created just an easy, simple front door,” Hooker said.

Staff were also trained in desensitization, a process of helping the patient feel comfortable with each step in a procedure before it begins.

On Wednesday, Hooker queried the biobank again, and found that the number of participants with autism spectrum disorder had more than tripled to 140. He’s hoping to eventually get thousands.

Una Basak’s 20-year-old son, Sachin, is one of those who contributed. He is profoundly autistic and nonverbal. But when he went to the Lurie Center in Lexington, the medical assistant calmly explained what she was about to do, and first pretended to do it on his mother’s arm. Sachin observed each step and then allowed his blood to be drawn. He was awarded a certificate afterward.

“You need highly skilled staff who understand autism,” Basak said.

Sachin’s twin brother, Anjan, couldn’t participate, though. He has such severe anxiety he can’t visit the clinic at all. Although a doctor comes to their home, drawing blood would be too risky if he became agitated with a needle in his arm, his mother said.

“I’m very excited about this project,” Basak said of Hooker’s effort. “One of the major markers of discrimination in the country against individuals with profound autism is the significant lack of research in this area.”

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Now she’s helping spread the word among other parents of children with autism. “They understand how important it is for our kids,” she said.

The MGB Biobank was established in 2010 to speed biomedical research across the Mass General Brigham health system. Patients agree to supply three vials when they come for care to any MGB clinic, hospital, or doctor’s office, often providing the extra vials during a blood draw for a diagnostic purpose. The blood is de-identified but linked to medical records and responses to questionnaires.

Receiving some 12,000 tubes a year, biobank technicians process the blood, separating components, including DNA. The samples are stacked within frost-encrusted drawers inside 38 hulking freezers at the biobank’s headquarters in Cambridge.

With these blood samples readily available, researchers don’t need to recruit patients but can instantly tackle such questions as whether, say, people with a certain genetic profile or lifestyle are at greater risk of depression.

Some 145,000 people have enrolled and more than 450 studies have been conducted as a result, said Dr. Jordan Smoller, codirector of the MGB Biobank. The samples are intended for MGB researchers; people from other institutions can access them only if they are collaborating with MGB researchers, Smoller said.

The biobank collects only blood, but blood reveals a lot. It is teeming with tens of thousands of clues to a person’s health — not just DNA but also byproducts of processes that occur in the body. For example, when neurons die from brain injury, they shed telltale substances into the blood. Even signs of cancer can be detected in the blood.

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“The biobank has become an engine for all kinds of research,” Smoller said.

It’s especially important for autism research, which has long been bedeviled by the vast differences among individuals with autism. Some can’t speak and need round-the-clock care, while others attend college and hold jobs. Yet for a long time, studies have lumped them all together.

When a treatment works for only five out of 100 participants, that might not mean the treatment is ineffective but rather that it works for select individuals who have something in common. Grouping people with autism into subtypes will better target research and eventually treatment.

But to identify these groups, you need to have data from large numbers of patients. A lot more than the 45 that Hooker found when he first queried the MGB biobank in the summer of 2022. And other biobanks typically do not offer data that are fully integrated with clinical records. “Requesting from other biobanks does not allow you to dream up a question and answer it efficiently,” Hooker said.

Hooker is working on a project to identify a possible subtype of autism connected to immune system dysfunction. The researchers want to pinpoint the signs of inflammation in the blood that can determine which individuals belong within this subtype. Then those people can be recruited into studies of treatment tailored to this type of immune-related autism.

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Other researchers are studying the genes involved in autism. Hundreds have already been identified.

When Alison Singer’s daughter was diagnosed with autism more than two decades ago, no one could tell her the cause, never mind offer useful treatment. The doctor suggested the girl take Prozac. When Singer asked why, he said, “We don’t know. It might make her feel better.”

“Our kids deserve better than that,” said Singer, who is cofounder and president of the Autism Science Foundation in Scarsdale, N.Y., which raises money for autism research.

Singer urges parents to obtain genetic screening for their autistic children. So far, only about 20 percent of autism cases have been linked to a genetic variant, and yet genes are thought to be involved in most of them.

“These biobanks that are resources for researchers are really a big step,” said Pamela Feliciano, senior scientist at the Simons Foundation in New York City.

Feliciano is the scientific director of SPARK, a research endeavor recruiting anyone diagnosed with autism, which collects saliva samples — cheaper and easier to obtain than blood. The project extracts and sequences DNA; since 2016, SPARK has identified dozens of genes connected to autism.

But blood, she said, “has even more potential, because there’s different levels of scientific knowledge that one can glean from blood.”

With blood, researchers can “tap into regions of the genome that are inaccessible” from saliva samples, as well as identifying other substances that may play a role.

“We still have a long way to go,” Feliciano said of autism research. But already “the research has really powered a better genetic understanding of what causes autism.”

This research is critical, because there is no objective biological test that can diagnose autism, and animal studies have limitations.

“It’s a very human condition,” she said.


Felice J. Freyer can be reached at felice.freyer@globe.com. Follow her @felicejfreyer.