The Scarlet Letter

Page 6 of 11

TGen is a big deal. Last week, the news of the institute's discovery of a link to the cause of ALS, or Lou Gehrig's disease, made national headlines, and within science circles, TGen, Stephan and his colleagues are held in high esteem.

Isaac Kohane, an associate professor at Harvard Medical School, co-director of the school's Center of Biomedical Informatics and a pediatrician by training, calls Stephan "a colleague and a worthy competitor."

Stephan is a sweet, baby-faced man, who, when I met him, winced a lot. He'd just had knee surgery, following a skiing accident. But he was at work, which is where he admits he usually is, racing the clock to find the genes that cause not just autism, but a list of other medical conditions: Alzheimer's disease, Lou Gehrig's disease, cancer. It can be a real downer of a job, except that in the past several months, TGen has had enormous success in identifying genes. (Here I must disclose that my father is on the board of directors of TGen, something I didn't know when I embarked on this autism story. He's no scientist — everything I've told him that I've discovered, in the course of writing this story, has been news to him.)

I toured the lab, which looked very impressive in that scientific kind of way, and Stephan gave me some tiny plastic containers that held genetic samples used in an Alzheimer's study. But what was really impressive was the study he handed over; it had just been published in the New England Journal of Medicine. The title: "Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2."

Now, that is a mouthful. What it means is that with the help of the Clinic for Special Children in Strasburg, Pennsylvania, Stephan and his researchers gathered DNA samples from several children who all had the same form of autism: a very severe form, accompanied by a horrible form of epilepsy. The seizures in these children are so bad that at times, Stephan says, the treatment is to remove half the patient's brain.

Through this study, the TGen researchers identified one particular gene that, when damaged, they say will cause this condition 100 percent of the time. That was a huge discovery. But it accounts for just a tiny fraction of the cases of autism out there.

And it won't necessarily lead to a cure. The day I met with Stephan at the TGen laboratory, he was very cautiously optimistic and visibly uncomfortable when I asked him just what this would mean. Naively, I was thinking it would lead almost immediately to the development of a magic cure-all pill.

No, he said. Not yet, at least. "Every time I say the cure word, I sort of stumble on it," he said. "I don't know if it's ever going to happen, I don't know when."

I pushed him with questions about what the discovery meant. Stephan looked pale, maybe from the pain in his knee or the fact that he knew I had a child with Down syndrome (and had obviously not chosen abortion, although he doesn't know the story's more complicated than that), and finally, he admitted that, no, there was not going to be a cure for autism, not anytime soon at least. But you'd know before the child was born, he said, and therefore would be able to "avail yourself of reproductive options."


When we spoke a few months later, Stephan had more information, and, I'm guessing, had come up with some better spin. It hadn't been long, he cautioned, but once they found the gene that caused that horrible form of autism in the Amish population, doctors had identified several children who had the gene, but had not yet developed symptoms. The children are being given medication early, and it's too soon to tell for sure, but it looks like it's staving off the condition.

"We can now test kids who aren't affected yet, for this gene mutation, and we've been doing that," Stephan says. "We can start to treat them pre-symptomatically, and we've done that, and it looks like you can really have a positive benefit by treating these kids before their autism and seizures strike."


Even more amazing is what will happen next. I had hoped to break this news, but word leaked out this summer when the Arizona Legislature approved $7 million in funding for the research. Still, I didn't read a single account that actually explained what will happen, which is this:

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Amy Silverman is a two-time winner of the Arizona Press Club’s Journalist of the Year award. Her work has appeared on the radio show This American Life and in the New York Times, the Washington Post, Lenny Letter, and Brain, Child. She’s the co-curator of the live reading series Bar Flies, and a commentator for KJZZ, the NPR affiliate in Phoenix. Silverman is the author of the book My Heart Can’t Even Believe It: A Story of Science, Love, and Down Syndrome (Woodbine House 2016). Follow her on Instagram (@amysilverman), Twitter (@amysilvermanaz), and at amy-silverman.com.