Researchers have found 13 individuals with a genetic mutation for 8 severe mendelian conditions that should have made them sick but somehow they did not. This resistance to the diseases may be the key to uncovering protective genetic variants that could help elucidate the mechanism of the illness.
The study consisted of the analysis of 874 genes in nearly 600,000 volunteers that led to the discovery of the luckiest 13, according to the paper published on Monday in the journal Nature Biotechnology.
Existing genomic data in the patients was analyzed by the team who looked for people who may be resilient to disease by focusing on mutations annotated as being completely penetrant for severe childhood mendelian disorders, which is the inheritance of biological features according to Mendel’s first law.
The eight diseases who were inherited by the subjects but they somehow did not show any presence were cystic fibrosis, Smith-Lemli-Opitz syndrome, familial dysautonomia, epidermolysis bullosa simplex, Pfeiffer syndrome, autoimmune polyendocrinopathy syndrome, acampomelic campomelic dysplasia, and atelosteogenesis.
This is the first time a study have found what geneticists have discussed and dreamed for years, commented Eric D. Green, director of the National Human Genome Research Institute. Even with the accumulation of large databases of people who have had their genomes sequenced, these results have never been showed, as reported by the New York Times.
The end of the road for researchers
Even though the findings were very promising, this is as far as researchers can go due to the signed agreements where people who provided their DNA had the right to remain anonymous and prohibits the team to go any further with the information.
“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 could not open the box.”
However, the results did show the possibility of subjects immune to those already mentioned illness. The team, including Dr. Friend, will now begin the next phase of their project that will recruit at least 100,000 volunteers this time without the anonymity agreement.
Source: Nature Biotechnology