Even though the specifics of Brooke Greenberg’s biological situation remain a mystery, researchers believe her genome is a trove of information with the potential to reveal secrets to longevity. Oddly, when scientists first sequenced her genome everything looked normal. She also had no abnormalities in her endocrine system, and no chromosomal abnormalities either, so they started to dig deeper.
After sequencing, Schadt and his team identified three mutated genes that hadn’t been seen before in the general population. Two of the three have the potential to be related to aging processes, but their exact roles are unclear. “The only way to compare her genes is to make stem cells from her in order to study what the gene mutation might be doing functionally,” says Schadt.
By making a variety of stem cells from neuron cells to liver cells to cells from Greenberg’s skin, the scientists can look at how the molecular state of the cells changes with the mutations. And by exposing then to a variety of conditions, they can study how they interact in different environments. “If one of those genes is a true candidate, it would shed real light on aging and development, which would be a big contribution to the scientific community,” says Schadt.
Another investigator, Richard F. Walker, a medical researcher at All Children’s Hospital in St. Petersburg, Fla., has also sequenced Greenberg’s genome as well as those of three other girls with similar phenotypes, including Gabby Williams, a young girl from Billings, Mo., with a similar developmental problem.