I've just volunteered to be a part of a new DNA study, because frankly, it's the most interesting, novel idea for fighting genetic diseases I've heard of in some time. Turns out that for plenty of genetic diseases there are people who carry the gene for the illness — who should be sick or dying — and aren't. For some reason their bodies, or perhaps even something in their environment, has protected them from suffering from diseases like cystic fibrosis, Rett Syndrome and others.
Biologist Stephen Friend is co-founder of the Resilience Project, which seeks to find — by tapping into the relative cheapness of genetic tests — the (genetic) needle in a (human) haystack. He's asking for thousands of volunteers to send in a sample (a simple cheek swab) to find those special-gened people who he calls "unexpected heroes." Unexpected (and likely untested) because, of course, if you have a disease that's unexpressed, you would never know it. And Friend and other scientists want to figure out what's unique about those people who have this amazing combination of genes that could kill them, but aren't.
This is based on the existence of people whom scientists and doctors have found randomly. Says Friend in an interview, "One was a woman in her 50s with a mutation in the gene that causes cystic fibrosis but who has never had anything more than mild respiratory problems. And there was a 45-year-old man who never had any symptoms but learned by chance that he had the usually fatal neurological condition Louis-Bar syndrome, which is caused by a faulty gene. Both had an inherited childhood disease but no symptoms. That is exactly what we are looking for."
So, who can be a part of this project? You can: "Anyone who is over 30 and was relatively healthy in childhood — who did not go to a doctor with a severe illness — can volunteer. None of the hundreds of inherited diseases we are considering would be a minor bother," says Friend.
This is a numbers game, so every extra person helps, but the project is also specifically looking to test certain groups that might have an higher than expected number of people who are likely to have these genes to figure out how and why they have been protected from them.
"We are also hoping that there are environmental niche populations, whether in the Amazon or in the Arctic, that may carry protective factors genetically or as a result of environmental influences that will again be of benefit for finding resilience," says Friend.
So I've signed up — I've never had anything more serious than chicken pox and strep throat, so I qualify. I expect, like most of the vast majority of people who volunteer their DNA, to get a form letter saying that I just don't have any of the markers for one of the 125 serious childhood genetic diseases they are testing for.
But who knows? I could be an unexpected hero. So could you.
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