USA – The completion of the Human Genome Project opened the door to an old dream of medicine: using the sequencing of DNA to understand the origin of diseases.  If you could determine the genetic mutations that caused a disease, it would be easier to improve early diagnosis and perhaps develop therapies to “correct” such errors in the genome. Since 2003, the database Online Mendelian Inheritance in Man (OMIM) has collected more than 6,000 diseases with 150,000 genetic variants associated.

 A study published April 11 in Nature Biotechnology describes first thirteen “superheroes” who have managed to avoid mutations that occur in the DNA.  The research, led by the Icahn School of Medicine at Mount Sinai and the company Sage Bionetworks, has carried out a diametrically opposite approach to the one made traditionally.  Instead of seeking genetic “defects” that cause disease, scientists have focused on studying the genome sequence of thousands of people to find those individuals who, despite presenting a determined mutation did not develop this disease.

 The “tricks” in health and disease  

Of the nearly 600,000 DNA samples analyzed, researchers have determined that 13 people are “resilient” to their own genetic errors. In other words, despite having mutations in their DNA that normally are associated with a disorder, these individuals are able to resist and avoid defects in the genome without showing clinical symptoms of the disease. “It ‘s a lot of research,” say the sources consulted by this means, emphasizing that if it is already rare determining a mutation of a rare disease, it is even more difficult than changes occurring in the DNA of the same person thereby developing a specific resistance syndrome.

The research has focused traditionally on identifying the “genetic errors” associated with a disease. According to Eric Schadt, professor of genomics at Mount Sinai, most of genomic studies focus on determining the cause of a disease, but they saw that it was appropriate to know what makes a person healthy.  The evolution over millions of years has produced more protection mechanisms we know today.  Thus characterizing the tricks of our genomes will allow us to reveal the elements that promote health in ways we never imagined.

The study analyzed previously built 12 DNA databases, sifting through 874 genes associated with 584 metabolic or neurological diseases, among others.  The genomes came from adults who had never been diagnosed with such diseases. Reading their DNA identified thirteen completely healthy individual who had genetic variants linked to eight different syndromes.

Eric Topol, director the Scripps Translational Science Institute, said that traditional genomics research has focused on the disease, but this research shows how beneficial it is to study the health and resilience, in order to understand the mechanisms of protection have those with pathogenic genetic defects . According to him, the results of this study bring about interesting insights to the level of healing of these genetic variants and its penetrance in databases.

The concept of penetrance, generally speaking, is the probability of a person developing a certain disease if you have a specific mutation.

The study results show not only there are mechanisms that protect us against such errors in our genome, but also reveal that research is needed with millions of DNA samples to identify more “superheroes” and tricks presented in their respective genomes to be able to resist the development of a disease.