Although they do not know it, 13 incredibly fortunate people each inherited a mutated gene that causes a fatal or extremely debilitating disease in infancy or childhood–but these people are adults, and healthy.
Their DNA may hold clues to treating others who did not escape the gene’s effects. That is the conclusion of a paper, published last week in the journal Nature Biotechnology, in which researchers searched databases containing genetic sequences from nearly 600,000 healthy adults and found these remarkable 13.
“A real tour de force,” Dr. Randall Bateman, a professor of neurology at Washington University in St. Louis, who was not involved with the research, said of the paper. The new paper is among the first fruits of a research direction that geneticists have discussed and dreamed about for years, said Eric D. Green, director of the National Human Genome Research Institute.
Until now, with the accumulation of large databases of people who have had their genomes sequenced, it had not been possible to find people who met such criteria. But the triumph is not complete. When the people in the databases provided their DNA for analysis, they signed agreements guaranteeing that they would remain anonymous. So the researchers cannot go any further.
“You can imagine the level of frustration,” said the study’s lead researcher, Dr. Stephen Friend, the president of the nonprofit Sage Bionetworks and a genomics professor at the Icahn School of Medicine at Mount Sinai in New York.
“It is almost as if you got to take the wrapping off the box but you couldn’t open the box.” The finding, though, is a proof of concept, he and others say. Now, Dr. Friend and his colleagues, Eric Schadt and Jason Bobe of Mount Sinai, are beginning the next phase of their project, which they call the Resilience Project.
That will involve recruiting at least 100,000 people who will agree to have their genomes sequenced and to be contacted only if they have a mutated gene that should have made them ill or killed them, but did not.
The study published last week was prompted by Dr. Friend’s frustration. He spent years in academia and biotech companies searching for ways to fix genetic defects that cause disease. Success was rare, because even when researchers knew that a gene-destroying mutation was causing a disease, they rarely found a drug to restore the gene.
Monday, April 18, 2016 / Vol. 24 / No. 15