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CTF Funded Research Unravels Schwannomatosis Gene Link to Childhood Cancer

In a research project funded in part by a Children’s Tumor Foundation Schwannomatosis Award, a team of researchers at Albert Einstein College of Medicine has helped to further unravel the functioning of the schwannomatosis gene, and showed further links of this gene to childhood cancer.

In the April 26 online issue of Cancer Research, Dr. GanjamKalpana and her co-workers show that when the schwannomatosis associated gene, INI1/Snf5, is mutated,  it causes changes in the expression of another gene, Aurora A.  It has previously been shown that INI1/Snf5 is mutated in childhood rhabdoid tumors.  Dr. Kalpan and her team have shown for the first time that Aurora A expression is increased in childhood rhabdoid tumors and therefore represents a candidate drug target for treating these tumors as well as schwannomatosis.

INI1/Snf5 was only recently identified as a schwannomatosis-assiociated gene – in 2007. This exciting progress further helps us understand schwannomatosis and how to treat it. Furthermore it suggests that progress in schwannomatosis research can likely inform treatments childhood cancers, and vice versa.

The Children’s Tumor Foundation has been a major driver in advancing schwannomatosis research in the past few years, since the schwannomatosis gene was identified:

CTF published the first clinical diagnosis guidelines for schwannomatosis is 2005.

CTF has invested more than $700,000 in schwannomatosis research since 2007.

CTF  has held a series of research think tanks to encourage collaborations between physicians and scientists, with the next think tank scheduled for June 2011.