Brotherly Love, No Matter What

UNC undergraduate Austin Ludwig works at the Carolina Institute for Developmental Disabilities to play a role in autism research he hopes will help millions of people, perhaps even his younger brother.

When Austin Ludwig was 11, he didn't know what to make of his younger brother Mason. He didn't know what to tell friends who wondered why Mason couldn't talk at age 4. Austin felt embarrassed, but the older Austin got and the more he learned about autism, the more he wanted to help.

In high school, Austin would sit with special needs kids at lunch, get to know them, befriend them, get them things they needed. He volunteered during his free periods, during lunch, after school. He'd help teachers, doing whatever they needed him to do. He volunteered at state-run facilities for people with autism, at the Miracle League of the Triangle, and the Autism Society of NC.

As class president, Austin led a senior service project – a charity golf tournament to raise money for the North Carolina Autism Society. Calling it "Chipping in for Autism," Austin and a friend raised $2,045 for the Autism Society of NC. The money amount wasn't the point. The experience changed Austin.

One February day in 2016, Austin was online searching for research opportunities, when he came across the website for the Carolina Institute for Developmental Disabilities (CIDD).

"I knew Carolina was great at autism research, but I didn't know anything about it," Austin said. "When I found that site, I saw Renee Clark's number and called it." Clark manages the CIDD research registry, which contains the names of more than 6,000 North Carolina families with a child diagnosed with autism. These families have volunteered to be contacted by UNC researchers conducting various studies. They've been invaluable in helping UNC researchers study early onset of autism and develop interventions that have been shown to improve the social and emotional outcomes for kids.

The CIDD wound up hiring Austin to do community outreach to try to recruit more families to help with research.

Now Austin is part of SPARK, an ambitious research project in collaboration with the UNC TEACCH Autism Program, aiming to sequence the genomes of 50,000 people with autism, as well as immediate family members. It's funded by the Simons Foundation, which enlisted 21 research universities around the country to recruit families willing to participate. UNC-Chapel Hill is one of them. In fact, Carolina was one of three pilot sites Simons chose to determine if such a project was even feasible.

SPARK is founded on the idea that autism is a complex disease that involves many genes. If scientists can analyze the genomes of many people with autism and family members, then they might be able to eventually link specific genetic profiles to specific kinds of behaviors and symptoms. If that's possible, then doctors such as those at the CIDD could begin to tailor interventions and treatments based on a person's genetic profile.

SPARK, though, is just one part of UNC's massive research endeavor related to autism.

With the creation of the UNC Autism Research Center, Carolina's autism research base will expand even further. Under the leadership of the executive committee, whose members include Joe Piven, MD, and Mark Zylka, PhD, the UNC Autism Research Center has an opportunity to do what few others can: bring together the range of genetics, pharmacology, public health, and intervention expertise at UNC to work together on autism's greatest challenges.

"What's exciting here at UNC is that we have one of the largest programs of autism research in the world," said Piven, director of the CIDD and the Thomas E. Castelloe Distinguished Professor of Psychiatry, Pediatrics and Psychology at the UNC School of Medicine. "And our research spans the full range from basic science to clinical research to applied research."

Earlier this year, Piven's team led research published in Nature in which they used MRIs to predict which high-risk babies would develop autism as toddlers. Piven's team also led research using MRIs to measure the amount of cerebrospinal fluid in the brains of babies. Researchers then linked increased amounts of fluid to autism diagnoses at age 2. Both papers, and a third soon-to-be-published paper, show it is possible to predict autism before symptoms appear.

"The more we understand about the brain before symptoms appear, the better prepared we will be to help children and their families," Piven said.

On the basic science front, last year Zylka, Director of the UNC Neuroscience Center, led groundbreaking work on potential environmental triggers of autism. His lab tested hundreds of commonly used chemicals to determine which ones produce gene expression changes in mouse neurons similar to genetic expression changes found in people with autism and neurodegenerative conditions, including Alzheimer's disease and Huntington's disease.

Zylka's lab also figured out how a particular kind of genetic mutation can increase the risk of autism. This work would have been impossible without Zylka having access to a collection of genetic information from the Simons Foundation, which funds some of Zylka's research. This compendium of genetic information – the Simons Simplex Collection – is only possible because families with a child with autism have gone beyond allowing their children to participate in research studies and allowed their children's genetic information to be used by researchers across the country.

Through SPARK, Austin Ludwig's family is now part of this effort.

"Once researchers have all these sequences of parents and children, it will be huge in terms of research and coming up with potential treatments," Austin said. "I'm very excited about it. My parents and I are very excited to be a part of it."

Though Austin hopes his brother improves, learns to speak, and is able to overcome some of the more debilitating aspects of autism, he is focused on the simple steps he can take to help his brother no matter what.

"I want to take this Chipping in for Autism non-profit to the next level," Austin said. His second golf tournament raised nearly $6,000. "I hope pursuing a business degree helps. But I'm open. I'm not exactly sure what the future holds for me."

Except one thing: Mason. Austin wants Mason in his life.

"If Mason stays as severe as he is now at age 11, then I want to make as much money as I can so he can live with me. I'd have a professional assist with him so he can gain as much help as he needs and be a part of my life. I want my kids to be with him. He's my brother. I love him."