Some People Might Unknowingly Carry The Key To Curing Deadly Diseases
In many cases, genetic factors can explain why some people get sick, or why people are predisposed to an illness. But most of the time, knowing about a genetic predisposition for certain diseases hasn't shown us how to prevent or cure that illness.So maybe looking at sick people is the wrong approach.
Friend and Schadt are the principle investigators for the Resilience Project, an initiative that's trying to study those rare people who have the same genetic factors that normally cause disease but who are somehow protected by either genetic mutations or environmental factors.In a TED 2014 talk released online today, Friend calls these people "unexpected heroes" - most people don't know they have these hidden protective traits that could perhaps help others.
It turns out, he explains, that there are precedents for finding people like this and creating therapies based on the factors that make them unique.In 1980s and 1990s, doctors realized that a very small number of people with high levels of HIV never developed AIDS, he explains. They had certain genetic mutations that prevented them from getting sick. Now, treatments for AIDS are being developed based on those mutations. Along the same lines, most individuals who have high lipid levels, meaning fatty acids and cholesterol, develop heart disease. But there are some who don't. This can sometimes be explained by genetic mutations or protective environmental factors. Once these are better understood, they may provide new strategies for fighting heart disease.
From detection to treatment
There are 127 diseases that researchers have clearly identified as being caused by a single gene, according to an article published today in Science by Schadt and Friend, and researchers have linked thousands of gene variants to diseases ranging from Alzheimer's and type 1 diabetes to various cancers and asthma. Yet, they write, even though they've pinpointed genetic risk factors, that hasn't necessarily turned into an effective treatment.
Part of the problem is that knowing what makes people sick does not mean we know what keeps others healthy.But if the Resilience Project is a success, they'll be able to identify the genetic mutations and environmental factors that keep certain people from getting sick. Then, at some point, it might be possible to develop drugs and preventative treatments based on those factors.
Once the project identifies those rare people who are resistant to certain diseases, they need to see what these people have in common. In order to do this, they need to have a certain number of those people in the first place, which is the hard part, as they're quite rare.
They've already begun to gather genetic information to look for people who have genetic predisposition to serious diseases that should have showed up during childhood, but didn't. According to the Resilience Project website, they estimate that only 1 out of every 20,000 people will have some kind of uncommon resilience.Since they need as many people involved as possible, in terms of individuals who provide their genetic data and organizations that will help them analyze it, this is an open source project - the genetic data will be publicly accessible (though individual information will be confidential).
Now, they're recruiting individuals who are willing to join the project through their website. This summer, they'll start gathering data from anyone willing to send in a DNA sample. They won't provide any information to volunteers unless they do happen to have a genetic mutation and not the associated disease - but they hope that the ability to contribute to a project that could transform medicine will be enough.Watch the TED talk:
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