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Genomic Research: Rapid Advances Changing Lives

From Theresa Phillips, About.com Guide   September 5, 2010

Hockey season is gearing up again and, living in Canada, it's hard not to pay at least a little bit of attention to what's going on. I got thinking this morning about former Maple Leaf Jason Blake, and the story of his battle with cancer. I'm not tuned in to hockey every day and just learned of his story, so if you already knew about it, please bear with me...but I think it's an inspiring example of what the biomedical industry can do to bring hope to those with cancer.

Just three games into the regular season of 2007, Jason announced he had been diagnosed with chronic myelogenous leukemia (CML). A mere 6 years earlier, this might have been catastophic news, as the prognosis for this form of cancer was poor. The rapid pace of genetic research saved the career of this NHL'er, however, thanks to the field of genomics. All CML patients have a translocation of genetic material between chromosomes 9 and 22. Chromosome 22 is also known as the Philadelphia chomosome, abbreviated as Ph, Ph1 or Ph(1). The resulting mutation in hematopoietic stem cells results in unregulated production of white blood cells, and a diagnosis of Ph+ CML. Current therapies include tyrosine kinase inhibitors (TKI), which keep in the abnormal stem cells in check. These drugs block the activity of a type of enzyme called kinases, which transfer phosphate groups from ATP to tyrosine residues in proteins. However, the stem cells are not completely irradicated, so patients must continue to take the medication for life.

The drug prescribed to Jason, Gleevec, was approved by the FDA in 2001 and is currently licenced to Novartis. The advantage to Gleevec is that it can target one specific kinase without inhibiting other enzymes of the same family. Genomic research and high throughput technologies helped scientists identify the specific kinase involved in CML, and then discover and optimize the drug to treat it. With this therapy, Jason is able to continue playing hockey professionally to this day. The rapid advances in biomedicine and infinite potential for new discoveries brought about by biotechnological research should serve as an inspiration to anyone facing a possible cancer diagnosis.

Why All the Excitement About Stem Cells?

Innovation.org: The Story of Gleevec

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