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“This is the first real step in quantifying how different genomes function to produce us,” says James Sherley, a stem-cell biologist at the Boston Biomedical Research Institute and one of the project’s first 10 volunteers. “The answers to why genome expression is not deterministic, to how environment influences genotypic expression, to how the same genome can produce an eye, a heart, and a brain–all of these mysteries and more [lie] in this rich experimental milieu.”

Church aims to enroll 100,000 volunteers in the next phase of the project, creating a correlated database of genetic, medical, and trait information that can be complemented with cells from the subjects of interest. Scientists around the world could then design their own experiments around the data, using the cells.

The ambitious project is still in its very early stages. So far, Jay Lee, a scientist in Church’s lab, and In Hyun Park, also at Harvard, have derived stem cell lines from two of the volunteers: Church and Rosalynn Gill, a founder and chief science officer at Sciona, a personal-genomics startup in Aurora, CO. Initial studies of the cells have focused on genes involved in inflammation, an immune reaction that plays a role in most human ailments, including stroke, diabetes, autoimmune disease, and aging.

Lee says that the experience of studying his boss’s cells has been unique. “Deriving tissues, such as hair, from someone you know is strange,” says Lee. “It’s a phenomenon never seen before in modern medicine.” He adds that sharing his findings with Church, even though they are preliminary and difficult to interpret, has given him pause.

In addition, because the cells carry the genetic blueprint of their donors, they could be used to determine, and perhaps publish, genetic characteristics that donors and their families may not want to know. Pinker, for example, says that he’s unsure if he wants to know whether he carries a genetic variation that dramatically raises his risk for Alzheimer’s disease.

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Credit: Personal Genome Project

Tagged: Biomedicine, stem cells, sequencing, personal genomics, George Church

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