Individuals with mutated genes defy genetically caused diseases that should have resulted.
It has always been assumed that if a child inherits a certain mutated gene from its parents, the child will most certainly suffer from the genetic defect that accompanies the mutated gene, but new research on healthy children is finding there are some who are apparently immune, according to usnews.com.
But not many. Researchers poured over data from almost 600,000 individuals to find only 13 who should have suffered from childhood diseases because of their inherited genetics, but for some reason, did not develop the conditions. But those 13 have the scientific community excited, as the research into why this happened could lead to breakthroughs in preventing the diseases in those who may not be as lucky as these individuals.
Dr. Stephen Friend, a researcher and president of Sage Bionetworks, a nonprofit biomedical research organization in Seattle, said in order to develop ways of preventing disease, you must look not only at finding the cause of the disease, but also at ways of preventing the disease in the first place. Friend added you study the healthy people as well as the sick people, and in doing so, you can gain insight.
Friend and his fellow researchers focused their research on Mendelian disorders, which are genetic diseases usually caused by a mutated gene passed from parent to child, and normally surface in childhood. These type genes are considered penetrant, meaning anyone that has the mutated gene will contract the disease the gene causes.
This new research wanted to look at healthy people, to see if any had disease-causing mutations, but weren’t affected by them. The team scoured through the records of dozens of other research projects that had completed genetic testing, looking for one of 874 identified genes linked to 125 Mendelian disorders.
Thirteen individuals were found, who appear to be free of the diseases their mutations should have caused, including such diseases as cystic fibrosis, and other often fatal maladies.
Privacy regulations prevent the team from contacting the 13 individuals for further study, since their consent for testing forms include a clause that forbids contact by researchers. More research may have been able to allow the scientists to determine why these particular subjects were resistant to these diseases.
Friend said it was like unwrapping the box, but not being able to open the box to see what was inside.
Findings from the research were published in the journal Nature Biotechnology.