Some People Might Unknowingly Carry The Key To Curing Deadly Diseases

Some People Might Unknowingly Carry The Key To Curing Deadly Diseases

KEVIN LORIA SCIENCE  MAY. 30, 2014, 5:44 AM

When trying to understand a disease, researchers typically study sick patients.

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.

Instead, we need to find the people who are genetically predisposed to these diseases but don’t get sick, say biochemist Stephen Friend, president of Sage Bionetworks, and Eric Schadt, director of the Icahn Institute for Genomics at Mount Sinai School of Medicine.

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 thatonly 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).

So far, by collaborating with Children’s Hospital in Philadelphia, 23andMe, a Finnish hospital, and other organizations, they’ve been able to check more than 500,000 DNA samples, and have found dozens of people who should have developed some kind of genetic illness, but didn’t.

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.

 

About bambooinnovator
Kee Koon Boon (“KB”) is the co-founder and director of HERO Investment Management which provides specialized fund management and investment advisory services to the ARCHEA Asia HERO Innovators Fund (www.heroinnovator.com), the only Asian SMID-cap tech-focused fund in the industry. KB is an internationally featured investor rooted in the principles of value investing for over a decade as a fund manager and analyst in the Asian capital markets who started his career at a boutique hedge fund in Singapore where he was with the firm since 2002 and was also part of the core investment committee in significantly outperforming the index in the 10-year-plus-old flagship Asian fund. He was also the portfolio manager for Asia-Pacific equities at Korea’s largest mutual fund company. Prior to setting up the H.E.R.O. Innovators Fund, KB was the Chief Investment Officer & CEO of a Singapore Registered Fund Management Company (RFMC) where he is responsible for listed Asian equity investments. KB had taught accounting at the Singapore Management University (SMU) as a faculty member and also pioneered the 15-week course on Accounting Fraud in Asia as an official module at SMU. KB remains grateful and honored to be invited by Singapore’s financial regulator Monetary Authority of Singapore (MAS) to present to their top management team about implementing a world’s first fact-based forward-looking fraud detection framework to bring about benefits for the capital markets in Singapore and for the public and investment community. KB also served the community in sharing his insights in writing articles about value investing and corporate governance in the media that include Business Times, Straits Times, Jakarta Post, Manual of Ideas, Investopedia, TedXWallStreet. He had also presented in top investment, banking and finance conferences in America, Italy, Sydney, Cape Town, HK, China. He has trained CEOs, entrepreneurs, CFOs, management executives in business strategy & business model innovation in Singapore, HK and China.

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