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Entries for March 2013

26
Taken From the Dystonia Medical Research WEBSITE: Several years ago, DMRF-funded investigator Zbigniew Wszolek, MD of Mayo Clinic Florida began studying a large family with three generations living with adult onset focal dystonia. None of the family members had any of the known dystonia-causing mutations, and this was the first study of late-onset primary dystonia in an African American family. D...

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Retta Beery posted on March 26, 2013
25
An estimated 60 million people worldwide suffer from one of 7,000 rare diseases, fewer than 5% of which have treatments approved by the FDA, writes NPS Pharmaceuticals President and CEO Francois Nader. Article can be found at:  http://www.xconomy.com/new-york/2013/03/20/fighting-a-global-war-on-rare-diseases/

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Retta Beery posted on March 25, 2013
11
National Geographic ran a piece on Lilly, Gay, and Steve Grossman after Lilly underwent whole genome sequencing.  Gay reached out to me after hearing our family's story on NPR.  Lilly had been misdiagnosed on several occasions and they wanted answers.  Fantastic article, here's the link: http://phenomena.nationalgeographic.com/2013/03/11/we-gained-hope-the-story-of-lilly-grossmans-...

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Retta Beery posted on March 11, 2013
11
One of the many families we have been able to reach over the years was featured this weekend in several news articles.  Lilly's mom, Gay, contacted me after hearing a news piece on NPR, about 2 years ago, on our family.  We met the Grossman family, did a few email introductions to see if they could get their daughter's genome sequenced, and then heard about a study that was taking place ...

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Retta Beery posted on March 11, 2013