Breakthrough science from a Walk volunteer turned autism researcher

By neuroscientist and autism researcher Rene Anand, of the Ohio State University Wexner Medical Center and College of Medicine.

My research focuses on studying how genes and the environment interact to increase susceptibility to neurodevelopmental disorders such as autism. We are currently developing brain nerve cells (neurons) and brain organoids from stem cells derived from human skin cells. Sometimes dubbed “brains in a dish,” brain organoids allow us to study how exposure to chemicals affects early brain development in humans and how gene changes contribute to susceptibility to neurologic conditions such as autism.

My lab is getting a lot of attention for this breakthrough research. In this blog post, I’d like to reflect on why I walk for Autism Speaks and how Autism Speaks has been guiding my work for nearly a decade.

The story actually starts a couple years before I learned about Autism Speaks. On August 29, 2005 – the day hurricane Katrina destroyed New Orleans – I had been working in the neuroscience center at Louisiana State University Health Sciences Center. The center was devastated and so was our home. We’d lost nearly all we owned and wondered where life was headed.

But hope arrived with hundreds of volunteers from all over the country. I don’t know their names, but their faces and acts of kindness are seared into my memory. They helped us with clothes, water, food and the basics to keep us going. It was a transformative experience.

Fast forward to January 2007, when I decided to move to Ohio State University to re-establish my research program. Inspired by the volunteers who came to our rescue in New Orleans, I wanted to volunteer for a deserving cause.

Fortuitously, I receive an email from Autism Speaks asking if I would help organize a Walk in Columbus, Ohio. I jumped at the opportunity. We met in a small Westerville school with staff from Autism Speaks and a handful of families. Among them would be Lori Peacock and Marci Ingram. It was the start of my enduring journey with Autism Speaks and the families of those affected by autism.

By 2008, I was strategizing with Marci Ingram, our first Walk chair and a dozen committee members. Marci was a great cheer leader who guided our efforts. From bake sales to night outs at a favorite restaurant, one dollar at a time and month by month, thousands of volunteers signed up and worked to raise funds for autism advocacy and science.

I would become the “neuroscientist-in-residence,” even though at the time I knew little about the neuroscience of autism! Well, to be fair, few neuroscientists knew much about autism at the time.

In 2008, we had our first successful Walk for Autism Speaks on campus. By then, I had met hundreds of families and made great new friends all over Columbus. I met Bob and Suzanne Wright for the first time.

In 2009, I realized I wanted to do more than raise money for Autism Speaks. I wanted to make a difference at the level of the science. I got lucky. Geraldine Dawson, Autism Speaks’ chief science officer at the time, secured a front row seat for me at a highly informative autism meeting in Bounas, Switzerland. Autism Speaks was helping educate me! 

In 2010, I was invited to speak at an educational autism meeting in organized by Autism Speaks in Los Angeles. I got to hear from best scientists in the field, from Nobel Laureate Tom Sudhof to Fragile X pioneer Mark Bear, among others. I also became privy to strategic discussions about launching an era of genomics-guided research.

That same year, Autism Speaks funded a pilot study in my lab. We were testing whether a drug called varenicline would remedy the loss of nicotinic receptors in some individuals with autism.

We began the work using lab mice, and the results were disappointing. They didn’t produce any solid evidence that the compound would help people. We even ended up returning some of the funds from the pilot grant to Autism Speaks.

My team’s failure left us with a nagging doubt. Could we ever hope to understand autism in a rodent model?

Like cancer researchers who always have human tumors to test their ideas, could we also hope to make an organoid model of an embryonic human brain to understand how environmental or genetic factors increased the risk of autism?

By 2012, researchers were reporting that they could reprogram skin cells to become induced pluripotent stem cells. They coaxed these stem cells to mature into different human tissues. Shinya Yamanaka won the Nobel Prize for this work, and it opened up new possibilities for us!

Of course, the Holy Grail for autism research was a model of the human brain. Thanks to the Wexner Medical Center and OSU College of Medicine leadership, Drs. Steve Gabbe and Clay Marsh, as well as the generosity of the Wexner and Ingram families, we received pilot funds to take on the daunting task to make such a brain organoid.

In 2014, after years of dedicated effort – especially by Susan McKay in my laboratory – we achieved this important milestone.

So where are we headed next? Why are we so excited? 

For the first time, we have a model human brain organoid system that has all the major parts of the brain. It includes cortex, midbrain, hindbrain and spinal cord tissue.

This enables us to test ideas and strategies to alter the early path to autism. Ideas on what environmental factors may increase risk for autism.

We can also test our ideas about what medicines may be useful for treating autism, and may be even predict side effects.

We also may be able to advance understanding of the genetics of autism.

Brain organoid systems also hold the promise of helping researchers distinguish different subtypes of autism and we have begun this process in my laboratory.

We can meaningfully achieve these goals in the near future. The “clinical trials” with our brain organoids would be safe and ethical. They would be relevant to human health, not those of mice or rats! They would be faster and cheaper. They could be personalized.

This is a “blocker buster” wrote Lori Peacock, a past Columbus Walk chair, after she stopped by our lab and saw our engineered human brain organoids.

We agree! This technological leap made with funds from generous and caring donors helped change what seemed impossible to now possible. We are hopeful that the next steps have become easier and predict greater success in the next generation of therapeutics developed for autism.

Susan McKay and I founded a new company NeurXstem. Its goals are to advance the use of human brain organoids models for autism among others. We decided that the commercial world is a good place to raise capital for solving complex problems like autism that requires interdisciplinary approaches and collaborations.

This is a true story of how private organizations like Autism Speaks and philanthropy from private families like the Ingrams and Wexners and the local Columbus community made a huge difference by investing in a futuristic concept.

I want to thank the Autism Speaks community for its support.