While gene therapy techniques continue to develop and show promise for successful application in humans, emphasis is equally being put on early intervention.
Scientists at Nationwide Children’s in collaboration with Cincinnati Children’s, the Ohio Department of Health and Centers for Disease Control and Prevention, are facilitating newborn screening for DMD at 33 Ohio hospitals to help influence early diagnosis of the condition. “Early diagnosis allows for earlier treatment, may allow families to better prepare themselves for the emotional and financial issues caused by a diagnosis of DMD, and could help families plan for future pregnancies,” said Dr. Mendell.
Dr. Mendell says early detection of comorbidities is equally as important. Muscle Group members recently identified gene mutations that may predispose patients with Becker muscular dystrophy to early onset heart conditions. The group is now funded to examine mechanisms of heart disease in Duchenne muscular dystrophy.
Genetic studies are helping to classify which type of dystrophin gene mutation patients have in order to better inform the treatments that might work for them. “As genetic screening becomes more widely available, clinicians will now be able to use this information to deliver more personalized care to patients with neuromuscular diseases,” said Dr. Mendell.
In these ways Muscle Group members continue to take critical steps toward helping patients deal with neuromuscular diseases.
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