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Genetic Escape Artists Offer Clues to Illnesses

Posted By Prucia Buscell, Wednesday, April 27, 2016

How Did a Lucky 13 Defy an 'Inevitable' Fate?
A very small number of healthy adults over age 30 whose genetic mutations have been thought to guarantee fatal or extremely debilitating childhood illnesses may provide clues for scientists seeking to prevent or treat genetic diseases.
In a study published in Nature Biotechnology, researchers examined genetic data from more than half a million people around the world. Working with 12 previously collected large data sets, they searched for adults who remained healthy even though they carried genetic mutations linked with severe childhood disorders. They focused on diseases, such as cystic fibrosis, that produce severe symptoms in childhood and are caused by mutations on a single gene.    
The idea of the new research was "study the healthy, don't just study the sick," co-author Stephen Friend, MD, PhD, said in a Scientific American story by Live Science writer Agata Blaszczak-Boxe. Dr. Friend, president of the nonprofit Sage Bionetworks and a genomics professor at the Icahn School of Medicine at Mount Sinai in New York, explained in a press briefing that the findings may be a step in findings therapies that prevent manifestations of the diseases in other people who carry the unlucky mutations.      
A New York Times story by Gina Kolata explains the researchers looked for mutations in 874 genes that are linked to 84 severe diseases, and found 15,597 people who might fit the criteria for resilience. But they discarded nearly all because of errors in the data or because evidence didn't support the idea that the mutation would inevitably cause the disease. They ended up with 13 people whose verifiable mutations were thought to inevitably cause eight serious childhood diseases in the individuals who inherit the mutations.
While the discovery provides a new research tool, scientists can't examine the 13 "genetic superheroes" because when people whose information is in the data bases signed up to have their DNA analyzed an studied, they were promised anonymity. As a result, researchers don't know exactly what protected the 13 against their disease linked mutations. One possibility is the existence of genes that suppress the effect of the mutations.
Dr. Friend and his colleagues Eric Schadt PhD, and Jason Bobe, MSc, of Mount Sinai are beginning the Resilience Project. Their plan is to recruit 100,000 people who agree to have their genomes sequenced and be contacted if they are healthy despite a gene mutation that would have been expected to kill or sicken them.
In addition to cystic fibrosis, which affects the lungs and digestive system, the researchers looked at seven other serious genetic diseases. Pfeiffer syndrome affects the bones of the skull; a skeletal condition called atelosteogeneis, which is usually fatal at birth; familial dysautonomia, which affects nerve cells; epidermolysis bullosa simplex, a severe skin condition; autoimmune polyendrocrinopathy syndrome, a complex autoimmune disorder with many symptoms; Smith-Lemli-Opitz syndrome, which causes developmental problems, and acampomelic campomelic dysplasia, which is usually fatal to newborns.

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