Update to the AML Cancer Genome

chromocolorwebIn November 2014 I wrote about an American laboratory that had sequenced the entire genome of a person with  Acute Myeloid Leukemia (AML).  A genome is the full DNA sequence of an individual, it includes your genes (you have about 30, 000 different genes) and lots of other stuff called “non-coding DNA”. Off all the DNA inside you only about 1.5% of it is genes the other 98% is non-coding DNA. Read Small RNA Big News on the Wellcome Trust website to get some more facts and figures on the human genome, it’s mind boggling stuff.

The same group of scientists have now carried out the same genome experiment on a second person with AML. You can read a summary of the research at the Washington University in St Louis – News Releases page.  Cancer Research UK also have a news release, as do science news daily. (It’s quite interesting to read all three and compare the reporting style!)

So why is this important?  Well first of all it’s really difficult to do these experiments.  They didn’t just look at genes, they looked at all the non-coding DNA in between genes. In just one man, they found 750 mutations, the scientists think that about 64 of these are related to his leukaemia.  From what I can gather, none of the mutations discovered in this man are the same as the ones discovered in the woman’s genome they sequenced last year. This goes to show how complicated cancer is, just because two people have AML, does not mean they have the same disease. The scientists are now carrying out these experiemnts on other types of cancer as well (breast, lung, ovarian and brain tumours).

What does this mean if you have AML just now?  It doesn’t mean AML treatment will change, but the scientists have found at least 2 entirely new mutations that may give rise to AML, this will, in future allow better tests and better treatments for the disease.  None of these experiments are done routinely in hospital.  To sequence this one mans genome cost $500,000 (USD) and took a large team of scientists several months.

What is the point?  Hopefully some of the mutations found in this particular case of AML will be found in lots of others and allow scientists to develop new treatments aimed at these mutations.  When will these treatments be available?  Drugs take a long time to develop, even if you find a mutation it can take 10-20 years to develop a drug (read my July post “How do you find new drugs” to learn more.) None the less, we have to start somewhere and this research opens up a lot of new directions for future experiments and hopefully treatments.

An update to my update!

You can read about this research from one of the scientists involved called “Mass Genomics” in a post called “Second Cancer Genome in New England Journal“  There is also an editorial in the New England Journal of Medicine that explains why this research is important.


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