There has always been a tradition amongst medical research scientists to study people who are sick or differ from the norm, however an international group of scientists have turned that tradition on its head and have decided to study fit and healthy people to see if the answers lie there, and they have made some very interesting discoveries.
In a study of almost 600,000 genomes, it has been found that 13 people possess gene mutations that should result in severe genetic diseases but yet show no symptoms of the disease.
The study was a collaboration between 9 different groups across the globe but led by a group in New York, using data from across 12 different genetic databases, resulting in a total of 584,306 genomes for study. These genomes were scanned and analysed for gene mutations that were associated with complete penetrance for Mendelian childhood diseases. That means that the gene mutation is present in 100% of cases of that specific disease. The study limited its search to childhood diseases amongst adult subjects to rule out the possibility of the disease having just not developed yet. They also limited the study to severe diseases, as they had no access to medical records so relied on the self-reporting of illnesses from the subjects. Severe diseases ruled out the possibility of symptoms being dismissed or misreported by the subject. This narrowed the search to 874 genes known to cause 584 unique diseases.
The research showed that the “super 13” all possessed genetic mutations that should have resulted in one of these severe diseases but didn’t. These particular subjects were found to have genetic mutations that should have caused one of 8 different diseases. 3 of them showed the mutation for cystic fibrosis, a condition that affects the levels of mucus in the lungs; another 3 had atelosteogenesis, which prevents proper bone and cartilage growth; 2 had Smith-Lemli-Opitz Syndrome, which affects the cholesterol synthesis in the body and prevents normal development in the subject; 1 person had autoimmune polyrndocrinopathy syndrome, which prevents certain hormones from being produced; another person had Pfeiffer Syndrome, which causes premature fusing of bones in the skull causing a prominent skull deformity; 1 had epidermolysis bullosa simplex, which causes severe skin blisters upon contact with the skin; another had familial dysautonomia, which affects the development of certain cells in the nervous system; and the last person had the mutation for acampomelic campomelic dysplasia, which affects proper bone development.
“the “super 13” all possessed genetic mutations that should have resulted in one of these severe diseases but didn’t”
This discovery obviously presents very interesting possibilities and warrants further research into the “super 13”. This however, is where the problems lie, as all the genetic data was collected anonymously with no way of contacting the mysterious few to rule out simpler explanations such as, misreported data or mosaicism, a condition that causes some of the cells within a person to have a different genetic code to the rest. The figure of just 13 may also not be accurate as the study excluded many of the samples for reasons such as, the quality of the genetic data or inaccurate or incomplete information from the databases.
From this, a new study has been prompted which will involve the collection of new genetic data with contact information in order to take the next steps with this research. With a current statistic of 13 in about 600,000 this phenomenon is still very rare so the new study will be conducted on a very large scale. The project is called The Resilience Project and will hopefully lead to the next steps in combatting genetic diseases. If you would like to be kept updated on this project, you can sign up at resilienceproject.com
Last modified: 25th April 2016