Melanie Sunny's Page

[Reference: http://clinicaltrials.gov/ct2/show/NCT01182324?term=ataluren&rank=10 ]  PurposeThe traditional process for the development of new potential therapeutics for rare disorders and the ensuing research on safety and efficacy is changing. This is due, in part, to the increased ability of families, parents, individuals with rare disorders, and advocacy organizations to access and control information,…See More

A PLACE FOR EVERYONE TO SHARE WHICH DOCTORS THEY TAKE THEIR BOYS TO.

Researchers report making a 10-fold improvement in a technology that permanently repairs flawed dystrophin genes, giving a real boost to this therapeutic strategy. Highlights:An MDA-supported research group at the University of California, Los Angeles, has repaired the flawed dystrophin gene in isolated muscle cells and in mdx mice, an experimental animal model of Duchenne muscular dystrophy.Newly published refinements in the technology demonstrate a 10-fold improvement in the efficiency of…See More

Genzyme continues to work with PTC on AtalurenAnnamarie Dillon from Genzyme has sent Action Duchenne this recent updatehttp://www.actionduchenne.org/viewarticle?news=78 Genzyme is working closely with PTC to completely understand the results of the ongoing additional analyses. Once PTC and Genzyme have clearer insight on the best path forward globally, they will proactively come back to the community with an update. PTC and Genzyme…See More

My son is 4 years 10 months now and he has been diagnosed with DMD on Oct 8 2009. He has started physical therapy after diagnosis, and he is doing well now. Yesterday his physical therapist told me that she may recommend my son for taking six months break and then continue the therapy. During the break, she suggest us do stretching exercises with her instruction at home. I really have no idea if my son should take six months break.Your advice is much appreciated!!Best Regards,Melanie    See More

For years, researchers have grappled with a key conceptual question regarding Muscular Dystrophy, which is a group of hereditary muscle diseases that weaken muscles that move the body.The most common form of Muscular Dystrophy, Duchenne MD, is the most lethal genetic disease among children, according to the Centers for Disease Control and Prevention’s National Center on Birth Defects and Developmental Disabilities.Should researchers, in tackling this health problem, focus on gene therapy to…See More

discussion about what we have to do

Intravenous gentamicin increased dystrophin production in six of 12 boys with nonsense-mutation DMD but failed to improve strength or function at the doses used Article Highlights:Gentamicin is an injectable aminoglycoside antibiotic that has the potential to increase production of dystrophin, the protein missing in Duchenne MD and diminished in Becker MD. The antibiotic gentamicin is believed to coax cells to ignore ("read through") an inappropriate genetic signal ("premature stop codon"…See More