The number 13 may be unlucky for some cultures, but that is certainly not true for a new study that found 13 actual "human mutants," who amazingly remained healthy despite inheriting a gene that could cause them to suffer from life-threatening genetic disorders.
With the almost unbelievable ability to beat their odds of being regulars in hospitals and clinics, scientists think that these human mutants could be the key to life-saving new therapies.
"The identification of resilient individuals may provide a first step toward uncovering protective genetic variants that could help elucidate the mechanisms of Mendelian diseases and new therapeutic strategies," the authors write.
Elusive Treatments
Technology has become so advanced. In the field of genetics, this modernity has tremendously improved studies, particularly in the area of genome-wide association and sequencing. In fact, scientists are now able to identify the DNA types that serve as basis for genetic diseases.
Despite the advancements, experts cannot seem to develop effective treatments hence, they are left with no choice but to just develop drugs that can simply alleviate signs and symptoms, and not necessarily cure the disease.
The study, released on April 11 in Nature Biotechnology, centers on this frustrating dilemma. Study author Stephen Friend spent years in the academe and in biotechnology firms to find a fix for genes that cause diseases. While identification of mutation is achievable, finding a medicine to tame the gene remains a challenge.
With this, Friend thought of turning things around. He developed an idea of "compensating mutation" that would null bad ones, leading to new therapies.
Bright Future
The first step to fulfill the new vision is to find people that carry these so-called compensating mutations. This will allow the scientists to study the genetic and environmental factors that keep these human mutants healthy.
Somehow, the study was able to find 13 out of 589,306 people who remained free of signs and symptoms despite having a mutated gene. Therefore, the future is bright and someday, scientists may find success.
Next Step
The team was able to trace down 13 amazing people, yet these participants are not aware of their "gift." This is because when they provided their DNA for investigation, they signed a contract ensuring that they would remain anonymous. Therefore, the scientists cannot contact them back and possibly conduct further tests.
Sounds like seeing an ice-cold soda on a hot day inside a malfunctioning vending machine.
The plan now is for the team to start on what they call the Resilience Project. This will entail a minimum of 100,000 individuals who will agree to have their genomes sequenced and be contacted in the event that they were found to have a mutated gene that could have killed or sickened them, but did not.
Hopes are certainly up despite the frustrations of elusive treatment and inability to access the previously identified human mutants. These letdowns may have been a cause for discouragement in the past, but that is not the case now. In fact, scientists may be more fueled than ever to find a solution to genetic diseases, and for this, life-saving new therapies may finally be on the way.
