by Garry Nolan, Ph.D., Department of Microbiology and Immunology at Stanford University School of Medicine and To The Stars Academy Genetics Technologies Advisor
In the late summer or Fall of 2012, I became aware of the so-called Atacama skeleton. It had been discovered in 2003, supposedly in an abandoned nitrate mineral mining town in the Atacama region of Chile. It made its way eventually to Spain where it now resides in a private collection. It doesn’t take long to be impressed with the Atacama specimen (Figure 1) as it features several remarkable attributes. First, while desiccated and mummified (the Atacama region is one of the driest places on earth) it looks distinctly like a small human – with seemingly proportionate bones, length of arms, and legs. While being only 6 inches long (Figure 2), there were bone attributes that under X ray analysis gave the appearance that, if human, the specimen was around 6 years old at the time of death. Most strikingly, and probably what garnered the most attention was the shape of the head—slanted large eye sockets, a turreted large skull, and narrow face. Was it a novel form of dwarfism? One of the “little people” claimed by the locals to have been seen in the area? It looks human… but then again not… and not unlike what many might consider “other worldly”.
And that was how I got involved. I had heard about the Atacama specimen (nicknamed “Ata”) from a friend with an interest in UFOs. When he sent me a picture of the specimen from PR materials of a documentary called Sirius that was being filmed, I immediately thought, “Well—if it has DNA I can determine if it’s human”. Frankly, I thought the makers of the movie would have already started such an analysis, but I sent an email to them anyway to offer my services to sequence DNA from the specimen. I received a nearly immediate reply and so began a journey that led me to meet many remarkable people willing to study unusual phenomena and led eventually to my association with To The Stars Academy.
I won’t recount the detailed findings previously publicized in the wake of the movie Sirius. Suffice to say at the time I had found I could map 92% of the genome exactly to human normal. I could not, with the algorithms found in everyday genomics lab, match the other 8%. But there was nothing non-human about the 92% that I could match. Well, the media had a heyday by misinterpreting that statement and soon enough people were saying it was an alien-human hybrid. I still recall the Stanford PR department calling me when the reporters were contacting them about the Stanford Professor studying an alien in his lab. It wasn’t an alien, and I was a bit amused, but concerned that the data was being misinterpreted and an injustice to the science being done. So—in many ways the media mini-storm spurred me on to finish the analyses. What exactly caused Ata to look as it did?
In the ensuing four years I recruited several other top scientists to the team—each a specialist in an area of genetics we felt were essential to understanding the Atacama specimen. We already had on our team Dr. Ralph Lachman—a renowned specialist in pediatric bone disorders whom I had consulted at the very beginning of the process as to whether he had seen a fetus like Ata before (he had definitively not). We also brought on Dr. Atul Butte, whose lab at Stanford at the time (he is now at UCSF) was unique in its ability to comb through mountains of “big data” (genetics, medical records, phenotypes) and whose algorithms could find needles in haystack based on deeply thoughtful statistics. Atul’s efforts would be important in seeing if we could locate the genes that might cause the Atacama specimen to look the way it did. We also brought on Dr. Carlos Bustamante, another Stanford researcher who specialized in the genetics of indigenous peoples of South America. The work in his lab was key to matching the DNA of the Atacama specimen to the presumed region of it’s origin (not unlike the advertisements you hear for 23 and me – they’ll tell you about your ancestry from your DNA). Finally, we brought in the deep pattern matching algorithms of BINA, a company I co-founded with the former Chair of Statistics at Stanford, Professor Wing Wong, and with a joint graduate student of ours—a very talented young Iranian women named Narges Asadi (who became the CEO of Bina and was instrumental of the sale of BINA to Roche Diagnostics). Their role was to bring highly parallelized supercomputers to dig more deeply into the genome of the Atacama specimen than I had-- to clarify the “other 8%” and provide solid data for Atul’s algorithms.
In all, it took 4 more years and the work of 10 people—all provided pro bono in the spirit of pure exploration. It took another 2 years to shepherd the paper through anonymous review at a top genetics journal. The reviewers pushed us on details, made us go back and check things we had overlooked, and in the end made the outcome much more solid.
The results are in. The Atacama specimen is a specimen no longer. It is a girl, likely stillborn or born alive, but died very soon after. While the bone density and apparent maturation of those bones suggested “Ata” was a six-year-old, in fact we found genetic mutations in genes that are known to be associated with premature ossification (hardening of the bones). While Ata had 10 ribs (normal humans have 12), we found mutations (who knew??!!) that are associated with having only 11 ribs—yes… some of you reading this might have only 11 ribs as it’s part of the range of “human normal”. In fact, the concentration of mutations in bone growth regulation or collagen development was significant enough that we had to go to extra lengths to show we weren’t fooling ourselves. There was a mutation in a gene associated with turricephaly, a disorder leading to the elongated skull and oddly shaped eyes (Figure 3). The specimen was definitively a female… and definitively human.
We garnered several other points of wisdom along the way. First—the databases of human genomes are growing so large, and the algorithms so sophisticated, that it is becoming possible to predict from the genes alone what an individual might look like. The mutations we discovered in Ata will go into these databases and used to inform other studies. Especially important is investigations of bone disorders—perhaps a better understanding of the apparent rapid proportionate bone growth will give rise to therapies for individuals in catastrophic accidents. In other words, understanding Ata could enable drugs that enable more rapid bone healing. As with many “basic science” studies, the information goes into the databases and awaits an eagle-eyed individual who puts 2 and 2 together and comes up with something remarkable.
We learned as well that by considering all the possibilities—it might be human, it might not be, it might be one of the “little people” that indigenous peoples claimed haunted the hills of the region, or it might be a new primate—drove us to solve a puzzle that might have stayed a mystery and allowed people to speculate endlessly. But, using good science, clear thinking and bringing in the relevant experts we managed to solve a mystery about Ata—and realize in the end that Ata is a story of a human tragedy. Someone had a baby with catastrophic birth deformities. A young girl died early, became an international story about aliens, but also taught us a series of lessons which we might eventually turn around to help patients. So, it’s also a hopeful story and the researchers I worked with on this are all glad to have been a part of it (Figure 4).
For me, it underscores why I was excited to be a part of To The Stars Academy. I know the others on the team share my dedication to using good science for the study of biological issues and physical phenomena that mainstream science to date has ignored. Like Ata… there will be lessons, and hopefully we’ll be able to turn those lessons around to create things and understandings that benefit everyone. It starts by asking, “What is that?” It continues by stating… “I can understand that.” It concludes by actually doing it.
Garry Nolan, Ph.D.
Rachford and Carlotta A. Harris Professor
Department of Microbiology and Immunology
Stanford University School of Medicine