When she was first discovered, abandoned in a leather pouch behind a Chilean church, nobody quite knew what to make of little “Ata.”
The skeleton, a tiny thing only about 6 inches long, had 10 pairs of ribs (instead of the normal 12), a cone-shaped head — and appeared to have been around 8 years old at the time of her death, scientists said in a news release.
It eventually made its way to a Spanish collector who thought it might be an alien. Since she was found in the Atacama Desert, she took on the name Ata. Photos floated around the web, and speculation swooned.
Scientists first did a major analysis of the skeleton a few years ago, where they determined through X-rays and initial DNA analysis that the remains were only a few decades old — and quite human.
Stanford researcher Garry Nolan had two hypotheses: Either the child had truly lived eight years until her death, or she suffered from major mutations and a form of progeria, which causes rapid aging and premature death, Science Magazine reported in 2013. Her mother, the scientists say, was from the west coast of South America, where Ata’s body was found.
Now in a new study from UC San Francisco and Stanford University, published Thursday in the journal Genome Research, researchers say Ata’s otherwordly appearance can be explained using very earthly science.
“The moment I saw it, I could see there was something interesting going on there,” Sanchita Bhattacharya, a bio-informatics researcher at the UCSF Institute for Computational Health Sciences, wrote in a news release.
Bhattacharya and others analyzed more than 2.7 million variations in Ata’s genetic code to try to find what might have caused her unusual stature. She found that her appearance can be explained by a handful of mutations that are all linked to disorders like dwarfism, scoliosis and other musculoskeletal irregularities, according to a news release.
“This is a great example of how studying ancient samples can teach us how to analyze modern day medical samples” wrote co-author Atul Butte.
Butte said solving the puzzle of Ata isn’t just for kicks — it might help scientists learn how to work “backwards” to diagnose diseases from their raw genetic code.
Normally scientists start with the disease, then look around to try and find a gene that explains it. Instead, there may be a way to look at the whole genome and compare it a larger, generic set of genes to piece out what’s different.
The sheer strangeness of Ata could hold other secrets as well.
“Maybe there’s a way to accelerate bone growth in people who need it, people who have bad breaks,” Garry Nolan, the Stanford researcher who has been studying Ata since 2012, said in a news release. “Nothing like this had been seen before. Certainly, nobody had looked into the genetics of it.”