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Featured Blog Posts – March 2011 Archive (3)

Staff Romania, March 2011

I met Isa and Doru Tudorache several years ago when their son Peter was diagnosed with Duchenne. Isa and Doru were given the ‘no hope and no help’ diagnosis. Isa asked what she could do and as sometimes happens, the stars lined up exactly right. The Duchenne Parent Project (Italy) meeting was just a few weeks away. I introduced Isa and Doru to Filippo, and met them in…

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Added by Pat Furlong on March 22, 2011 at 1:10pm — 2 Comments

Staff Genetic Diseases of Children

Last year, Dr. Lawrence Sturman – Director of the Wadsworth Center, New York State Department of Health – decided it was time to organize a meeting focused on Genetic Diseases of Children. He gathered leaders in the field of rare disease (because many rare conditions are diagnosed in childhood) such as Robert Desnick (Dean for Genetics and Genomic Services, Mt. Sinai School of Medicine), Sharon Terry (Genetic Alliance), and Maggie Hoffman (Co-Founder and Director of Project DOCC). For the next… Continue

Added by Pat Furlong on March 16, 2011 at 1:28pm — No Comments

Staff Positive Results

If you saw yesterday’s news about Summit’s – a UK drug company – findings, you may have some questions about what this means and is next. This report refers to Summit’s compound that the pharmaceutical company Biomarin had in trial. The compound failed and Biomarin stopped the trial and made the decision not to go forward. The compound, which is a small molecule, SMT C1100 (orally available) and…

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Added by Pat Furlong on March 15, 2011 at 12:00pm — 4 Comments