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The Accidental Researcher: Raphael Bernier

Marina Sarris
Interactive Autism Network at Kennedy Krieger Institute
Date Published: 
October 23, 2014

Photo of autism researcher Dr. Raphael Bernier hikingRaphael Bernier wanted to help people. Could he do that in a research lab?

From the time he was a boy, growing up on the North Shore of Massachusetts, Raphael Bernier had been taught to help people. Not in a fuzzy way, the way many children are told to "do good things" when they grow up. His parents, a speech-language pathologist and a clinical social worker, helped people in concrete ways. Selected as the "class optimist" in high school, he planned to do the same. He would become a therapist and help troubled families find their way.

And for a time he tried to do just that. With a master's degree in counseling psychology, he counseled teens who were sexually abused and teens who were sexual offenders in Boston. "I was working with a very challenging population. The world seemed pretty dark," he recalled.

One day he was poking through the job listings in the Boston Globe and saw an ad for a research coordinator for Dr. Susan Folstein at Tufts University, his alma mater. In 1977, Drs. Folstein and Michael Rutter published a groundbreaking study of twins that uncovered a genetic link to autism spectrum disorder (ASD).

Raphael Bernier knew little about autism, but he had become intrigued by the social problems his teenage clients experienced. He applied for the job. Soon he found himself on the T (Boston's subway) en route to the interview, flipping through the psychiatric manual to the section on autism. He hit it off with Dr. Folstein and the families in her autism research project. "I was so interested in working with these families who were so engaged with their child, who had so many challenges in the social world."

And with that, he left the clinical world of helping people in their day-to-day struggles, and entered the world of scientific research. It was a happy transition, but not entirely a carefree one. He loved research; he loved science. But guilt nagged at him. Research brings scientific advances, sometimes small ones, that eventually may add up to a major discovery that will help people in the future. But it's not the same as helping one person solve a real problem today. "I felt like I should be working really hard to help families as a clinician. I was enjoying my work as a researcher too much."

With Dr. Folstein and others, he was a co-author of a paper in a medical journal in 1999 on progress locating suspected autism genes on chromosome 13 and 7.1 It was an exciting time in research. Many believed autism involved a relatively small number of genes; a breakthrough seemed possible, even imminent.

But Bernier suddenly took another path, one that allowed him to help people with very immediate problems.

Eels and snakes: Growing up on the North Shore

It's not what you say; it's what you do.

Raphe, the older of two boys, grew up playing in the marshes near his home in Rowley, Massachusetts. Always active and always curious, he would bring back creatures from the marsh. Once it was a huge, dark-colored snake that was as long as his driveway was wide. He wanted to keep it in the out-building his parents used as a garage. But his mom said no. "That idea didn't fly," Judith Bernier said.

He and his friends also brought home eels. She let him keep them in a tank, but only for a time. "You have to get them back to their own habitat," she told him.

He and his younger brother were so active that if she found them watching television, she would feel their foreheads for signs of fever. Only illness would keep them in front of a glowing screen during daylight hours. "He was always interested in what was going on around him and what made things tick."

A born multi-tasker, Raphe could keep many balls in the air without losing focus, sometimes quite literally. As a young graduate student, he would juggle while teaching a statistics class to undergraduates at the University of Wisconsin. "It was his way of keeping the students attentive," his mother said.

Mrs. Bernier is surprised to learn that her son felt guilty about going into research. "I hope he didn't get that from us," she said. "I use research information to meet the needs of my patients. It's really beneficial for everyone, and that seems to be a real love of his."

A speech-language pathologist, she sometimes took her boys to work with her. She doesn't remember specifically telling them to help people, but she acknowledges they may have absorbed that lesson from their parents' examples. His late father, a social worker, used to say, "It's not what you say; it's what you do."

"Both my husband and I felt good about what we did, and that it was important to help people having difficulties to be able to function better in daily life," Mrs. Bernier recalled.

A new path

Photo of Solomon Islands By StewyOz via Wikimedia CommonsWhile working with Dr. Folstein in Boston, Raphe Bernier had married. His bride, Kim, was interested in international development. In 1999, the couple joined the Peace Corps, the U.S. organization founded with great optimism in 1961 to "promote world peace and friendship."2 They traveled to the Solomon Islands. Kim taught schoolchildren, while Raphe trained nurses at a one-room clinic on basic emergency medicine. He relied on his experience as a paramedic during his college days at Tufts.

Although he appreciated the beauty of the South Pacific, he worried that he had made a "horrible mistake" to leave autism research at a crucial time. While he was in a leaf-and-stick hut on a white-sand beach, he thought, researchers a world away were laboring to find the genes for autism. "They're going to figure it all out without me," he thought. Now he chuckles at that "naïve optimism" in believing the puzzle of autism would be solved so quickly.

Political unrest caused the Peace Corps to suspend its program in the Solomon Islands in 2000. He and Kim headed back to the States and a new phase of their lives.

Next stop: University of Washington

His next permanent stop would be Seattle. He wanted to study for his doctorate in psychology with Geraldine Dawson Ph.D., a prominent autism researcher at the University of Washington (UW).

One day he was called upon to introduce Dr. Dawson at a lecture. Dr. Dawson is a pioneer in the early detection and treatment of autism. "Geri's very serious, and the University of Washington Psychology Department is very serious," he said. But Raphe Bernier? Not so much. He had performed in more than 250 productions for a children's repertory theater company, the Traveling Treasure Trunk, while in college. Being playful in front of an audience was, well, part of his DNA. "In the interest of being who I am, I just braved it: I sang the introduction." To the tune of "On Top of Old Smokey."

Dr. Dawson was surprised at the serenade, pleasantly so. "This was not the first song he wrote for me or for others in the lab. It was lots of fun having him part of the team and we were all very fond of him," she recalled.

"When I was considering accepting Raphe as one of my graduate students, in one letter of recommendation, one of his previous mentors warned me not to misinterpret Raphael's activity level as a sign of ADHD. She told me he is simply incredibly energetic. And, that turned out to be true – in a good way.  His ability to accomplish a project in record time surpasses any graduate student or colleague I have met in my career," said Dr. Dawson, now director of the Duke Center for Autism and Brain Development.

Given his high energy level, both inside the lab and outside (he likes mountain biking, hiking and yoga), he was a hearty eater. Dr. Dawson said she would bring extra food to lab meetings to make sure the lanky grad student got enough to eat.

Dr. Bernier in his autism research lab Dr. Bernier with a device to test imitation skills

Dr. Bernier may not describe himself as "serious," but his work certainly is. "Raphe is an exceptionally creative and productive scientist," Dr. Dawson said. "Even as a student, he made significant contributions to the field. He conducted one of the first studies on the mu rhythm and imitation in ASD, for example."

The mu rhythm is a brain wave that changes when people watch someone else do something, and also when they perform that action themselves. Children learn communication and social skills by watching and imitating others. In an experiment, Dr. Bernier had adults with ASD watch a video of someone performing various actions, and then imitate those actions. He also had typical adults (called controls) do the same. An EEG machine recorded their brain waves during the experiment.

The ASD group did not show the same changes in mu rhythm when watching someone perform an action as the control group. The ASD group also did more poorly when asked to imitate the actions they had watched. This suggests that a glitch in the way the brain works when watching others affects the imitation abilities of people with autism. That, in turn, could affect their social learning.3

Dr. Bernier received his doctoral degree in child clinical psychology in 2007 and now is an associate professor at UW and clinical director of Seattle Children's Autism Center. He also became the principal investigator at UW for the Simons Simplex Collection research project, which collected genetic and other information from more than 2,600 families that have one child with autism.

Using genetics to find a subtype of autism

With the Simons data, he finally made the type of discovery that had worried him on that Solomon Island beach. He discovered a genetic mutation for autism. It was not THE autism gene that researchers hoped to find in the 1990s, but one of the 1,000 genetic mutations now believed to be involved in different types of autism.

Working with the genetics lab of UW Professor Evan Eichler, his team identified a rare subtype of autism with its own symptoms and facial characteristics.4 The team started with a mutation in the CDH8 gene found in a few people and then looked to see what traits they had in common. When two unrelated children with the mutation came to see him a week apart, he had an "a-ha" moment: the two had similar facial features. People with the CDH8 mutation have autism, a large head, wide-set eyes that slant downward, a broad nose and forehead, a pointed chin, gastrointestinal problems, and sleep problems.

In addition to that discovery, Dr. Bernier relished another outcome of the Simons project: the chance to work with scientists across the U.S. and Canada. In universities, you don't generally get promoted for collaborating with others, he said. You get ahead by getting your name listed first on a research paper. But not so with the SSC: "I don't think I can overstate the value of the SSC to the field of science and autism. It was an incredible collaboration that was about doing great science, not getting your name first on a paper," he said. Scientists have used SSC data to research everything from speech development to head size, in addition to genetics.

Dr. Bernier, now 41 and the father of two, is fascinated by how a child with a particular gene or genes actually develops the complex behaviors we call autism. Genetic discoveries can seem small and removed, only affecting a minority of the people with ASD so far. "Understanding genetics of autism doesn't help families all that much today," he acknowledged, "but in the future, that is where medicine is going to go."

He sees potential for how such research can eventually translate into treatment. This is the future he envisions: If a doctor knows a child has a particular genetic mutation, that doctor could tell the parents what medical problems to be alert for, and what treatments and educational interventions would work best for that youngster's type of autism, Dr. Bernier said. This is one way for research to help people in a concrete way. And he's happy with that.

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References: 
  1. Barrett S, Beck JC, Bernier R, Bisson E, Braun TA, Casavant TL, Childress D, Folstein SE, Garcia M, Gardiner MB, Gilman S, Haines JL, Hopkins K, Landa R, Meyer NH, Mullane JA, Nishimura DY, Palmer P, Piven J, Purdy J, Santangelo SL, Searby C, Sheffield V, Singleton J, Slager S, et al. (1999) An autosomal genomic screen for autism. Collaborative linkage study of autism. Am J Med Genet. 1999 Dec 15;88(6):609-15. View abstract.
  2. Peace Corps website (2014, October 8). Retrieved from http://www.peacecorps.gov/today/
  3. Bernier, R., Dawson, G., Webb, S. & Murias, M. (2007) EEG Mu Rhythm and Imitation Impairments in Individuals with Autism Spectrum Disorder Brain Cogn. 2007 August ; 64(3): 228–237. doi:10.1016/j.bandc.2007.03.004. View paper.
  4. Bernier, R., Golzio, C., Xiong, B., Stessman, H.A., Coe, B.P., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-van Silfhout, A.T., Schuurs-Hoeijmakers, J.H., Fichera, M., Bosco, P., Buono, S., Alberti, A., Failla, P., Peeters, H., Steyaert, J., Vissers, L.E., Francescatto, L., Mefford, H.C., Rosenfeld, J.A., Bakken, T., O'Roak, B.J., Pawlus, M., Moon, R., Shendure, J., Amaral, D.G., Lein, E., Rankin, J., Romano, C., de Vries, B.B., Katsanis, N. & Eichler, E.E. (2014). Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development. Cell. 2014 Jul 3. pii: S0092-8674(14)00749-1. doi: 10.1016/j.cell.2014.06.017. View abstract.