Genome and Exome Sequencing
PROJECT UPDATE – December 10, 2015
YOU are funding the future – the definitive future of understanding the causes of cancer including colorectal cancer among young adults. Your support funds highly focused efforts to identify genes that contribute to causing colorectal cancer and other cancers that affect both women and men.
There you have it. It sounds dramatic and it is! Your donations make possible the complex research that will identify those most at risk of these deadly diseases and direct lifesaving screening and surveillance to those individuals. That’s a pretty hefty explanation for the complex research your donations are supporting! But, we thought you deserved to know just how important the research your support really is.
WHAT IS SO SPECIAL ABOUT THE RESEARCH WE ARE DOING?
Early age onset colorectal cancer is a growing health concern and an important topic in international medical research centers. The incidence of colorectal cancer diagnosed in young adults has risen dramtically in the past decade.
We and others have already tested many young adult colorectal patients for all of the KNOWN genetic factors associated with colorectal cancer - FAP CRC, LYNCH, MYH, etc. Only a fraction of these young adults have a known genetic syndrome or a signficiant family history of colorectal cacner. And, the genetic factors underlying their familial predisposition have yet to be discovered.
Furthermore, recent data demonstrates that up to 75% of early age onset colroectal cancer patients have no family history of the disease - suggesting new and complex genetic factors underlie these cancers.
It is time to step up our efforts to identify new genetic causes for CRC.
WHAT’S SPECIAL ABOUT THE TECHNOLOGY YOU’RE FUNDING?
With your help we are performing whole exome and whole genome sequencing. This is a new technology that massively expands the amount of DNA that can be tested and investigated. We now have the technological capacity to sequence the entire genome. The exomes are the portions of a gene or genome that code information for protein synthesis – otherwise known as CDA.
In addition we are able to also sequence so called non-coding regions that have not previously been explored for factors that have important functional effects and also contribute to CRC risk.
BUT WHAT IS TAKING SO LONG?
First, identifying a group of persons sharing a particular statistical or demographic characteristic isn't easy.
And second, the technology is so new it’s breaking the technological barriers of all previous genetic research. The information is overwhelming – we’re talking 100s of 1000s of genetic variants. Our bioinformatics are racing to keep pace with the technology and to manage all of the information it is supplying.
Finally, although costs have decreased significantly, it is still very expensive.
WHAT’S THE POTENTIAL IMPACT?
These techniques are the best way of identifying variations in DNA sequences and the future of genetic research of diseases going forward. This is the future for identifying novel genetic elements that contribute to complex human diseases including colorectal cancer.
We have the potential for discovering novel therapeutic targets and genetic biomarkers that will be useful for drug discovery, patient selection and stratification in complex human diseases including colorectal cancer.
Simply put, with your support we have the ability to save lives.
We can't thank you enough for your continued support of this lifesaving work.
THE COLON CANCER CHALLENGE FOUNDATION
YOU - Are Funding The Future!