2013-07-17



By Bertram K.

Two days after his death in May, Zach Sobiech’s song “Clouds” became the number one download on iTunes and now has surpassed seven million views on YouTube.

In it, Zach sings about his fight with cancer and bids farewell to family and friends. While I feel heavy-hearted listening to “Clouds,” Zach radiates a love and happiness that is particularly notable given his diagnosis of terminal cancer. At the age of 14, Zach was diagnosed with osteosarcoma, the most common malignant bone cancer affecting children and teenagers. The popularity of “Clouds” has helped bring awareness to Zach’s Osteosarcoma Fund at Children’s Cancer Research Fund, which supports research at the University of Minnesota Cancer Center.

This organization partially funds the work of Logan Spector, an associate professor at the University of Minnesota and an expert in osteosarcoma research. Logan Spector, along with Sharon Savage and Stephen Chanock from the National Cancer Institute and nearly 50 other colleagues from around the world, recently published a study in Nature Genetics looking at the association between genes and osteosarcomas.

By comparing 910 patients of European descent with osteosarcoma and 3,200 healthy people, the researchers identified a number of markers associated with osteosarcoma. The marker with the strongest association (rs1906953) is found in the GRM4 gene, which influences critical signalling within cells. Indeed, the researchers found that each copy of the T version of this marker is associated with 1.6 times higher odds of developing osteosarcoma.

This isn’t the first observed connection between signalling genes and osteosarcoma. A previous study showed that mutations in another signalling gene led to osteosarcoma in mice.

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Research exploring the connection between genes and cancer is important.  While this study was a valuable first step towards understanding osteosarcoma genetics, there is still much to discover. Members of the 23andMe Sarcoma Community have therefore come together to help uncover genetic associations for various forms of cancer, such as osteosarcoma and Ewing Sarcoma.

Hopefully, such genetic research will eventually lead to more targeted and personalized cancer therapies. Some may say that we have our heads in the “clouds.” And it may be many years before genetic research findings are translated into a “little bit more time” for people like Zach Sobiech.  Nevertheless, we choose to take a lesson from Zach, and will continue to look “up, up, up.”  As this brave young man said, “we’ll go up in the clouds because the view is a little nicer.”

SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.

Bertram is a biomedical engineer by training with a long-held interest in making science accessible to all. As a health scientist at 23andMe, he enjoys writing about notable genetic breakthroughs. You will also find Bertram climbing mountains worldwide, summer and winter.

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