Monday, October 05, 2009

Fwd: Exciting News: Chordoma-Causing Gene Discovered

Congratulations to Josh Sommer for this great discovery.  It is quite remarkable to see what he and his team have been able to accomplish.


---------- Forwarded message ----------
From: Josh Sommer <>
Date: Mon, Oct 5, 2009 at 4:17 AM
Subject: Exciting News: Chordoma-Causing Gene Discovered

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Researchers Identify Familial Chordoma Gene
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Dear Howie,

Today is a momentus day for the chordoma community - after thirteen years of research, the hunt for the genetic causes of chordoma has reached an important milestone with the discovery of a gene linked to familial chordoma. In a paper published today in Nature Genetics, investigators at Duke University and the National Cancer Institute report that duplication of the gene brachyury is a cause of familial chordoma.

Other inherited cancers are caused by mutations (misspellings in a gene), or gene deletion, but familial chordoma is the first linked to an extra copy of an entire gene. This groundbreaking discovery is potentially paradigm-shifting for cancer genetics, as it may indicate that gene amplification could be a risk factor for other types of cancer as well.

According to Dr. Michael Kelley, whose lab analyzed the DNA of familial chordoma patients, "this discovery is a classic example of where science answers one question but raises many, many more." Questions such as: why does brachyury amplification cause susceptibility to chordoma? is brachyury amplified in sporadic (non-familial) chordomas? do chordomas depend on brachyury to survive? can the effect of brachyury amplification be reversed? does reversing brachyury amplification kill chordoma cells?

While this discovery represents a major advance in the understanding of chordoma biology, only by answering these questions will researchers be able to determine what implications it has for the treatment of chordoma. The Chordoma Foundation stands ready to support these crucial follow-on studies, which will open a new frontier in chordoma research.

The importance of today's discovery cannot be understated. We salute and thank all the researchers involved in the familial chordoma study who have devoted so many years of their careers to uncovering the genetic mysteries of chordoma. We are glad to have provided funding to Dr. Kelley's lab over the past year, and are very grateful to all the donors who helped make this work possible.

Today I am more optomistic than ever before that a cure for chordoma can and will be found. No one knows how long that will take, but without a doubt today's announcement is a sign that research is accelerating in the right direction. Thank you for being a part of the journey to a cure - I look forward to sharing much more progress with you as the wave of projects sparked by this discovery start to bear fruit.




Read the press release from Duke University

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