Researchers who screened the genomes of over half a million people found 13 individuals who, according to medical textbooks, should be seriously sick but have somehow escaped disease. Share on Pinterest As we delve deeper into our genomes, we may uncover elements that promote health in ways we might never have imagined. The findings, published in Nature Biotechnology, represent the first steps of the Resilience Project, a large international study led by the Icahn Institute for Genomics at Mount Sinai, New York, NY, and Sage Bionetworks, a non-profit enterprise based in Seattle, WA. The project aims to discover hidden factors that protect health. Studying resilient individuals could help find new ways to prevent and treat disease, as co-senior author Eric Schadt, a professor in genomics at the Icahn Institute and one of the project founders, notes: “Most genomic studies focus on finding the cause of a disease, but we see tremendous opportunity in figuring out what keeps people healthy.” He explains that our bodies harbor mechanisms of protection that have developed over millions of years. We barely understand how these mechanisms work, but he believes that as we delve deeper into our genomes, we will find elements that promote health in ways we might never have imagined.

Individuals healthy despite genetic mutations for severe diseases For this particular study, Schadt and colleagues analyzed DNA from 589,306 adults. Using a newly developed panel of 874 gene mutations, they screened all the genomes for 584 distinct genetic diseases. The genetic diseases were mostly metabolic conditions, neurological diseases or developmental disorders that present in childhood with severe symptoms. All the genomes analyzed were from people who had never been diagnosed with any of the diseases. The comprehensive screening found 13 healthy individuals harboring mutations for eight severe diseases that develop symptoms in childhood. These included cystic fibrosis, a severe skin disorder, an autoimmune disease and other diseases that can cause skeletal deformity and mental retardation. However, these startling results need to be considered in the light of some of the study’s limitations. For example, the majority of candidates had to be eliminated because of problems with data quality and interpretation. The researchers also found that since all the data was obtained anonymously, they could not contact the 13 individuals and thus verify that they were truly resistant to the diseases whose mutations were identified in their genomes. Co-senior author Stephen Friend, president of Sage Bionetworks and professor of genomics at the Icahn School of Medicine, says the study highlights the benefit of getting informed consent from study participants. “If we could contact these 13 people, we might be even closer to finding natural protections against disease,” he explains. Friend, who co-founded the Resilience Project with Schadt, says they are planning a new study that will include a “more broadly useful consent policy.”