Superhero DNA

Researchers found that some people have “superhero DNA” that cancels out genetic diseases.

20:45 13 April 2016

An international team of researchers has searched for people harbouring damaging mutations but have somehow beaten the odds of developing genetic diseases. 

 

Their study of 600,000 people found 13 who should have developed debilitating diseases, including cystic fibrosis, Smith-Lemli-Opitz syndrome, epidermolysis bullosa simplex, familial dysautonomia, Pfeiffer syndrome, acampomelic campomelic dysplasia, autoimmune polyendocrinopathy syndrome and atelosteogenesis, but did not. The researchers’ goal is to determine what keeps these people healthy and if any of their discoveries in the future can lead to the introduction of new therapies.  

 

Dr Eric Schadt from the Icahn School of Medicine at Mount Sinai Hospital in New York, said: "Millions of years of evolution have produced far more protective mechanisms than we currently understand," 

 

"Most genomic studies focus on finding the cause of a disease, but we see tremendous opportunity in figuring out what keeps people healthy."

 

Prof Stephen Friend, from the Icahn School of Medicine, added: "Finding these individuals is a starting point to searching for the other changes, eg in the genome, that might give us clues to develop therapies.

 

"Study the healthy, don't just study the sick."