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Putting the pieces of autism together at CSHL

Alea Mills: Woman of the Year in Health/Medicine

Alea Mills has made breakthroughs in autism research at Cold Spring Harbor Lab. Photo from Dagnia Zeidlickis, CSHL
December 27, 2012 | 10:42 AM
Huntington residents may not know much about the scientific discoveries that go on in their backyards at Cold Spring Harbor Laboratory in Cold Spring Harbor.

Bruce Stillman, president of CSHL, said, "People don't realize what an amazing place this is. We've had eight Nobel Prize winners work here. Our faculty has to be held to the highest international standards, and Alea Mills definitely qualifies."

Who is Alea Mills, you may ask? "She is a local, even national, scientific star in genetic mechanisms and behavior," said fellow CSHL scientist Michael Wigler.

And he would know. Ten years ago, Wigler was one of the leading scientists doing groundbreaking research in human genetic disorders, including autism. He studied families: father, mother, a child with autism and a sibling. He was looking for gene alterations in the affected child that were not present in the mom, dad and sibling. According to Stillman, Wigler was able to map all the genes in autism and he discovered a deletion on human chromosome 16, which causes autism in children.

Wigler asked Mills to cause the same genes to be deleted in mice, so that they could study the mice. She did so and they discovered that the mice had some of the same behaviors that children with autism have — obsessive behaviors and impaired social behaviors. She had created one of the first mouse models in autism.

For her dedication to finding breakthroughs in autism and cancer research, the Times of Huntington names Alea Mills as Woman of the Year in Health/Medicine.

Originally, Stillman said, Mills had started working on cancer research. She and her team had discovered that large sections of chromosome 1 were deleted in many cancers and she was able to delete or remove the equivalent sections of chromosome 1 in mice. In deleting these sections, she eventually traced it down to a single gene. This is called "chromosome engineering — performing large-scale alterations to chromosomes at will," Stillman said.

"She is a very collaborative scientist," he added. "She has played a central role in this technology. Other scientists are jumping on this research now. Scientists are collaborating with Alea to study the brains of these animals."

Terri Grodzicker, dean of academic affairs at CSHL, explained how Mills created a good model of disease in a mouse that mimics diseases in humans and then analyzed it.

"She made models using tumor suppressor genes," Grodzicker said. "Not many people can do the work she does."

Wigler elaborated: "Alea Mills is one of the few people in the world who can do this. She can make lesions on mice similar to lesions in 10 percent of autistic children. This isn't easy to do and no one had done it before. This is difficult work and it's an important issue. This gives us insight into this disorder."

Wigler explained even further how much of an impact Mills' research could have. "As we continue this research, we might even be able to connect autism to sudden infant death syndrome," he said. "It can take a decade or more to look at all this. So far, Alea has been studying this since 2007. We are trying to find more mutations in autism. At this point we can explain 20 to 25 percent of autism ... Maybe one day, years from now, we can cure diseases such as autism."

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