December 12, 2011

Torah Kachur

The fall of the last Czar of Russia, Nicholas II, was a monumental blow at the beginning of the second century for the monarchies of the world.   Nicholas II's demise was largely from his lack to produce a healthy male heir with his only son suffering from Hemophilia B.  This illness caused his wife Alexandra to seek out the spiritual guru and sex-crazy mystic at the time, Rasputin, to heal Alexei and she also just wanted to appear cool. 


What on Earth is Russian history doing in a awesome science blog?  Much of the demise of the Romanovs, and hence the rise of communism, was because of a rare X-linked disorder where the males affected cannot clot their blood.  Specifically they lack the clotting factor IX where they cannot stop bleeding if cut.  What kind of tyrant could Alexei be if a papercut could take him down?  And now Hemophilia B can be cured with gene therapy.


The theory of gene therapy has been around for a long time - simply replace a defective gene in patients with genetic diseases with a good copy.  However, getting the good piece of DNA into the appropriate cells, at the right level, and getting that new piece of DNA to be made properly has been difficult.  Blood disorders provide a perfect first step to working with gene therapy because you can inject the good DNA right into the tissue that needs to be treated.  Of course, it's more complicated than that so don't start getting out your DNA lab from home.


Gene Therapy Adenovirus Hemophilia B


The researchers were able to use a delivery vehicle called adenovirus-associated vector (AAV) to deliver the right copy of hemophilia B into patients with the disease.  This isn't a treatment or temporary - it's a cure.  This is a huge advance in gene therapy treatments because there are many other blood disorders caused by single gene defects that could be cured by the same technology - including sickle cell anemia and some hereditary blood cancers. 


If only this technology was around 100 years ago, maybe Boney-M would have never been famous, Stalin couldn't have killed 50 million people and we'd have another royal family to stalk and taunt instead of just William and Kate.




In research published last week in the New England Journal of Medicine



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