Volunteers help researchers reveal new insights about the brain
Seattle – Though Genette Hofmann is still using her brain, last month she donated a bit of it – to science.
Hofmann needed the surgery – her Seattle surgeon was looking deep into her brain, where he found the trigger for the epileptic seizures that had disrupted her life for 30 years. But to get there, he teased out a bit of healthy tissue the size of a lima bean, and with her blessing quickly sent it to some researchers, who were eager to study brain cells while they were still alive.
That’s how Hofmann joined a long line of epilepsy patients who’ve helped scientists reveal basic secrets of the brain – knowledge that could pay off in better ways to measure consciousness in brain-injury patients and new treatments for a variety of diseases.
Research volunteers such as Ruth Nall, who made a different kind of contribution in a California hospital room, reading sentences aloud as a network of surgically implanted sensors kept close track of how her brain worked.
Since she was going to have electrodes implanted anyway, she reasoned, why not help out?
“Plus,” she added, “I’d have visitors.”
Epilepsy disrupts the brain’s electrical activity, producing recurrent seizures that involve strange sensations, behaviors, emotions and, sometimes, loss of consciousness. Most people with epilepsy don’t need surgery and can control seizures with medications. But when surgery is necessary, research scientists can ask to piggyback on the procedures for a rare chance to study the brain directly.
For decades, studies of epilepsy patients have revealed secrets of the brain, like how the two halves operate differently. And research with “H.M.,” a now-deceased Connecticut man who’s been called the most famous patient in the history of neuroscience, revealed key insights into how memory works.
The disease has a long history of revealing the importance of the brain to memory, emotion and everything we call the self, says Christof Koch, chief scientist at the Allen Institute in Seattle, where Hofmann’s cells were analyzed. “Seizures have taught us more about brain and the mind, and the relationship between the two, than any other disease,” he said.
Hofmann’s brain cells were rushed to the institute on “life support” in a cooler rigged up with artificial cerebral spinal fluid and oxygen. At the lab, researcher Herman Tung sliced the pearl of brain into thin sheets for viewing with a powerful microscope, readying it for a three-part series of experiments.
Researcher Katherine Baker found a single brain cell and recorded its electrical activity. She injected dye that spread into the threadlike dendrites of the neuron to reveal its shape.
Baker removed the cell’s nucleus for the third step: a readout of which genes are turned off and which are turned on.
About three-quarters of such donations at the Allen Institute come from epilepsy patients; the rest come from cancer surgeries. The Allen Institute is building an online atlas that makes information on hundreds of human brain cells freely available for study. The institute hopes that will provide a new avenue, beyond brain scans and animal studies, for tackling conditions like Alzheimer’s disease and autism.
For Hofmann, 57, the decision to contribute to the study was simple, even beyond her own epilepsy. She spent years caring for a grandmother with dementia.
“It was the easiest decision I’ve ever made,” she said. “This will be my chance to make a difference.”