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Undiagnosed Children's Awareness Day focused on genetics, rare diseases

I have a friend whose son has profound disabilities, and suffers from seizures and a host of other problems. For years, doctors have treated his symptoms but struggled to get to the bottom of his heartbreaking condition.

Odds are not high that they will.

Dr. Jimmy Lin doesn’t like those odds – or the odds of an estimated 300 million others who suffer from rare diseases around the world.

That’s why he created the Rare Genomics Institute.

I share the rest of the information below with words of caution: I know very little about this institute. I’ve downloaded a free e-book and will try to learn more, but I wanted to put its efforts on the radar for parents and families who may have a loved one with a rare disease.

The institute’s website lists several doctors and researchers bent on helping you get potential help – and they believe it will come in the form of genetic sequencing that one day will revolutionize health care.

That day has yet to come.

The challenge, says a key Roswell Park Cancer Institute genetic researcher, is that he and his colleagues don’t know if major advances are months, years or decades away.

Dr. Carl Morrison, executive director of the Center for Personalized Medicine at Roswell, was among panelists last month at a health journalists conference in Denver, during a talk entitled, “Getting Personal: The medical and ethical challenges of using genetic information.” Morrison and other panelists talked about the early work cancer and other researchers are doing to single out gene variances that can lead to disease in efforts to more efficiently target treatment. The work is difficult, lacks the specificity many scientists would like to see and remains costly, Morrison said, and health insurers and government health payers still haven’t come aboard to help cover the cost of this diagnostic tool.

As a result, “This is still a rich man’s game,” the Buffalo cancer specialist said.

But Friday was Undiagnosed Children’s Awareness Day, for what that might be worth, and the institute looks to link those with rare diseases with scientists, at the very least, interested in looking for solutions.

For Refresh readers who fit that bill, I wanted you to have this potential resource in your hands.

- Scott Scanlon

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