• Kirk Hartley

Understanding “Miracles” – It’s Increasingly Possible

Artist's conception of shattering chromosome - courtesy of Science Magazine.

Artist’s conception of shattering chromosome – courtesy of Science Magazine.

How did a “miracle”cure come to pass? Today we have more answers to those questions because today it’s exponentially more possible to look inside inside our bodies than it was 5-50 years ago. Indeed, in years past, scientists too often (but not always) were simply left to wonder why some people have extraordinary changes from bad health back to good health, or why a few respond exceptionally well to a drug that does very little for most people.

Science magazine bring news of a great new example of figuring out how a “miracle” occurred. In short, a young woman was in bad shape because her immune system was screwed up due to a defective gene. Later in her life, there was a “shattering” of – and major change in – the woman’s chromosome that contained 1 copy of the defective gene. The “shattering” got rid of the defective gene, and so she now is living happily ever after. And now we know the reason for the miracle. Very cool.

How cool will it be when we know if the “shattering” was a random event, or instead a protective reaction to the presence of or impact of the defective gene? Did the immune system somehow signal to ask for the shattering? Did mRNA call in “shattering proteins” because it perceived but could not fix the mutation in one copy of the gene? Did one or more epigenetic mark(s) signal for or otherwise cause the shattering? Or, did the shattering occur due to activity of some of the noncoding mRNA that today we call microRNA but way back in 1999, we used to refer to them (and more) as “junk DNA.”

See the article for all the specifics – it’s a truly cool story. Note also that the entire set of events highlights the value of systematically focusing in on what happened inside “exceptional responders.” It also would be well to focus on other exceptional instances of disease.  For example, how/why did that 45 year old manifest mesothelioma – was the BAP1 mutation present?

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