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Brain banks for autism are facing sample shortage
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Clare True had autism and periodic seizures, but nothing prepared her family for Christmas Eve in 2006, when the 26-year-old went to bed after watching a movie and stopped breathing.
"I got home from a party, went to check on her just after midnight, and she was -- she was gone," said her mother, Jane True.
Paramedics tried to revive Clare, then rushed her to the hospital, and somewhere in that fire-shower of activity and grief, the Trues, Jane and her husband, Jim, considered donation.
"I thought of it as a gift, her brain," she said. "To my mind the idea that scientists would be learning from her for years to come -- how can you put a price on that?"
Clare True's was one of 150 specimens stored in a Harvard brain bank that were ruined due to a freezer failure, doctors acknowledged this month. The loss, while a setback for scientists studying disorders like Huntington's disease, Alzheimer's and schizophrenia, especially mortified those working on autism, for it exposed what is emerging as the largest obstacle to progress: the shortage of high-quality, autopsied brains from young people with a well-documented medical history.
The malfunction reduced by a third Harvard's frozen autism collection, the world's largest. A bank maintained by the University of Maryland has 52 samples, and there are smaller collections elsewhere. Altogether there are precious few, given escalating research demands. The loss at the Harvard Brain Tissue Resource Center only makes donations from parents like the Trues more urgent.
"There's just no question that human tissue is the gold standard for research; you absolutely need it to answer some very basic questions," said Dr. Gerald D. Fischbach, a professor emeritus at Columbia and director of Life Sciences at the Simons Foundation, which promotes autism research.
The Harvard fiasco, first reported by the Boston Globe, has accelerated efforts by advocacy groups to reach out to families who might donate, said Alison Singer, president of the Autism Science Foundation.
"I made calls as soon as I heard what happened," she said.
Geraldine Dawson, chief science officer at Autism Speaks -- the group that administers the autism brain donations at the Harvard bank -- and a professor of psychiatry at the University of North Carolina, said, "This is indeed a setback, but it has motivated us more than ever to rebuild this precious resource."
Jane True, who lives in Kansas City, Mo., learned about brain donation through her work at an advocacy organization now called DUP15q Alliance for parents of children like Clare, who have a genetic glitch on chromosome 15 that causes a tiny percentage of autism cases (and is often associated with seizures).
Unlike Alzheimer's, or other age-related neurological problems, autism spectrum disorders develop early in life, and the brains of children and young adults with autism are of most use to researchers. But the young do not usually die in hospitals. Death often steals them in accidents: drownings, falls and car crashes.
"The greatest challenge is to get parents to imagine something that they just don't want to think about," said Kadi Luchsinger of Syracuse, N.Y., who coordinates tissue donation for the DUP15q Alliance. "It's the kind of decision you never want to have to make."
But the Trues did, and they had to act fast. The cause of their daughter's crisis was unknown and probably not due to the seizures or autism, her mother said. As Clare lay on life support in the hospital and doctors tried to revive her, Jane True, her husband, and Clare's two brothers paced in the waiting room.
"I don't know that we even had to talk about it. We'd lost another daughter years earlier and decided to donate organs," Ms. True said. "It's what Clare would have wanted -- she was always eager to donate blood."
Sometime past 2 in the morning, Ms. True called a hotline for the autism tissue donation program, and its staff immediately activated its donation network in Kansas City. The body was moved, and quickly, to the medical center at the University of Kansas.
Between 7 and 8 a.m., specialists there removed the young woman's brain and immediately froze it. It was shipped overnight in a box on dry ice to Harvard's bank, which is housed at McLean Hospital in Belmont, Mass.
At the Harvard bank, as at other brain banks, doctors often separate the brain's two hemispheres and freeze only half. The other half is preserved in a chemical called formalin. This was the case for all but one of the 53 specimens that were ruined at McLean, Dawson said; each frozen hemisphere that thawed has a matched pair that is preserved in formalin and is still valuable for studies.
But formalin, while it preserves the tissue, also alters proteins, making the samples poor material for studies of so-called gene expression.
Scientists now know that a handful of genes account for a small percentage of autism cases, but they need human tissue to piece together exactly where in the brain -- and when in development -- those genes are expressed, Dr. Fischbach said.
"We have had to divert a couple of research projects already" that depended on the frozen specimens, he said.
The arrival of an organ at a tissue bank is only the beginning of a long process, said H. Ronald Zielke, a professor of pediatrics who directs the National Institutes of Health's Brain and Tissue Bank for Developmental Disorders, at the University of Maryland.
"We need to do extensive interviews with the parents to gather information about the person's psychological state," he said. "It's not always easy, and that process can take a year or more."
First Published July 1, 2012 12:00 am
