A Hopeful Team on the #Path2Cures

December 5, 2014

Energy and Commerce Committee Chairman Fred Upton (R-MI) partnered with Rep. Diana DeGette (D-CO) in the spring of this year to launch the 21st Century Cures initiative, seeking to accelerate the pace of cures and treatments. The initiative’s first white paper explained, “Advances in science and technology, as well as personalized medicine, present us with an enormous opportunity, but it’s going to take time and collaboration.”

In an in-depth look at efforts to use scientific advances to unlock new cures, including a conversation with Dr. Francis Collins, Director of the National Institutes of Health, National Journal reports, “Most of the genome map’s potential hasn’t yet been tapped, but Collins says it has already helped scientists identify the underlying causes of about 5,000 of the 7,000 known diseases. In most cases, they’re still a long way from turning that knowledge into treatments or cures, but they’ve taken the first step.”

The committee has hosted hearings and roundtables in Washington, D.C. and across the country and is currently working to introduce a discussion draft in the New Year.

December 5, 2014

Cure Hunters

Francis Collins was fresh off one of the most important scientific advances of all time—decoding a rough draft of the entire human genome—when he first met 4-year-old Sam Berns.

Sam did not look like a typical preschooler. His hair was falling out. He wasn't gaining weight. He was beginning to look like an old man. But as the two played catch in Collins's backyard, "it was clear that this was a wonderfully precocious little boy," Collins says.

The symptoms had shown up in the first few months of Sam's life, when his growth essentially stopped and his bones began to deteriorate. His parents tried doctor after doctor, test after test. Finally, they hit on Sam's diagnosis: progeria, a disease so rare that few of his doctors had seen it outside of a textbook. It affects only one in every 4 million to 8 million children.

The diagnosis gave Sam's parents an answer but not much hope. There was no effective treatment for progeria, never mind a cure. No one knew what caused it. Hardly anyone had spent much time studying the disease. Those who had couldn't crack it. The only certainty was a grim prognosis: Children with progeria usually died around age 12 or 13, often from a stroke or heart disease.

Collins had done some research into progeria early in his career but had been frustrated by his inability to make much progress. "I thought to myself, 'Maybe someday, something will be learned about this' ... but I didn't know where to go with it," he recalls.

More than 15 years later, Collins met Sam's father, Scott Berns, at a cocktail party in Washington, where Berns had landed a prestigious White House fellowship. Berns was surprised that Collins had even heard of his son's disease. Berns and Collins started talking about what they could do to jump-start progeria research. A few months later, Sam's parents brought the boy along when they visited Collins's house to talk about setting up a scientific workshop. And the closer Collins grew to the energetic, determined child, the more invested he became in the search for a cure. …

Read the article online HERE

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