SEVERSON: For 12 agonizing years Kathleen was looking for an answer and recently got one from Dr. Ian Krantz at the Children’s Hospital of Philadelphia, who had sequenced [her son] Liam’s genome.
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DR. IAN KRANTZ (Medical Geneticist, Children’s Hospital of Philadelphia) And we not only found an answer in him, but we found the same answer in a number of other children, and we have a new diagnosis. We are understanding it, how to treat it better.
SEVERSON: The discovery of Liam’s genetic defect underscores how rapidly and how important the science of sequencing the human genome has become in modern medicine, especially when it comes to children. When researchers first mapped the human genome, it took almost 10 years and cost $3 billion. That was less than 10 years ago. Today the process takes three weeks, and the price tag is rapidly approaching $1,000.