When Alex Yiu was born, he seemed like a typical healthy kid. But when he turned 2, his mother, Caroline Cheung-Yiu, started noticing things that were amiss — first little problems, then much bigger ones, that eventually putt him in a wheelchair. The family set off on a "diagnostic odyssey," that included sequencing Alex's DNA. Still they found no answers until 12 years later, a scientist looked at his genome again, by a lucky accident, and discovered the gene causing his illness. There are thousands of cold cases like Alex's. The databases cataloging genetic diseases are constantly being updated. But scientists don't have the time to recheck their findings frequently. "It's a problem we're trying to solve across the world right now," says Ryan Taft, vice president for scientific research at Illumina, a manufacturer of gene-sequencing instruments. Read more about how the field of DNA analysis is evolving to help find answers about rare disease. |
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