Thursday, August 19, 2010

Thursday, August 19th, a HUGE day for those with FSH!

Follow up on ACE-031 and finding the cause of FSH!

A good friend of mine alerted me this morning to the fact that Acceleron Pharma has received FDA orphan designation for ACE-031!  Orphan designation is described here.  And then started the flood of awesome e-mails regarding the advancements in FSH research.  Said to be the biggest breakthrough in FSH in the last 20 years......

On Thursday, August 19th it has been published in the Journal of "Science," that scientists have figured out how the genetic flaw they have found to cause FSH actually brings about the disease.  It has to do with DUX4 (on the long arm of chromosome 4) being overly active (or expressed) in people with FSH.  DUX4 makes protein more harmful to muscle cells, said to be the cause of our deteriorated muscles.

DUX4 was talked about at the FSH Society conference in Las Vegas.  I knew that some great information and knowledge were being obtained by the researchers and they were moving forward, but really didn't fit it into the larger picture till today.  Reading the flood of articles in an A + B = C format verses deciphering what the researchers were saying, seemed a little easier for my little brain to handle.  They did say this article was coming out and I will check all of my notes from the conference when I get home to try and help shed a little more insight into the development.

What is very exciting on top of all the research news, is the fact that the information can be found in The New York Times, with an article titled "Reanimated 'junk' DNA Is Found to cause Disease."  Referring back to our meeting with Senator Murray's health advisor, it was blatantly said that those with the loudest voice receive the most funding.  The education of FSH and having the public aware of the fact that this disease actually exists and how prevalent it is, is a huge step in the right direction.

Speaking of the public becoming aware of FSH.... check out this article in Vanity Fair that popped up today (rather comical), "Zombie DNA Can Cause Muscular Dystrophy."  Being frightened by "Zombie DNA" might wake up the public I suppose!

One thing is for sure, now scientists will be able to focus drug development and have a clear direction in being able to find a cure for FSH.

Other articles on the advances in FSH research found today:

Local Press Release on, "International Research Team Closes in on Cause of Common Form of Muscular Dystrophy"  --- A few shout outs in this one!

e! Science News Article, "Scientists Pinpoint Earliest Steps of Common Form of Muscular Dystrophy", "Muscular Dystrophy Gene Riddle Cracked, May Lead to Treatments, Study Says"

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