They've been referred to as "genetic superheroes," and they could be key to solving some of the world's deadliest diseases.
Yes, real superheroes do exist — at least from a scientific standpoint. And they could be key to solving disease in the world.
A new study has identified 13 people who have genetic mutations that should cause severe diseases, but surprisingly don’t, indicating that their DNA may hold keys to treating previously untreatable conditions, according to a Mount Sinai statement.
In research published in the journal Nature, scientists at Mount Sinai went through 589,000 genomes to find people who had these characteristics, which scientists call “resilience.” They were able to identify 13 people that had genetic mutations th at typically cause on of eight severe childhood diseases like cystic fibrosis, but for some reason they haven’t had any problems.
Researchers have known about such “genetic superheroes” for a while. One young woman found in 2006 had very low cholesterol levels in her blood due to a gene mutation, and drug companies were able to use her to discover cholesterol-lowering drugs. Such discoveries are what prompted Mount Sinai to do a large genetic search to find more of these unique people.
“Most genomic studies focus on finding the cause of a disease, but we see tremendous opportunity in figuring out what keeps people healthy,” Eric Schadt, PhD, the Jean C. and James W. Crystal Professor of Genomics at the Icahn School of Medicine at Mount Sinai, and Founding Director of the Icahn Institute for Genomics and Multiscale Biology, said in the statement. “Millions of years of evolution have produced far more protective mechanisms than we currently understand. Characterizing the intricacies of our genomes will ultimately reveal elements that could promote health in ways we haven’t even imagined.”