Featured Genetic Counselors Articles on HCP
Spinal Muscular Atrophy: June Bi-Monthly Roundup
Since our last roundup, there has been continued focus in the spinal muscular atrophy (SMA) literature how best to treat the disease. There also continues to be research geared toward understanding the biology of the disease, as well as on SMA management, what it is...
Spinal Muscular Atrophy: Monthly Roundup
Much of the most recent research regarding spinal muscular atrophy (SMA) has focused on understanding the mechanisms mediating the disease as well as the clinical value of different pharmaceutical interventions. There have been several reviews on the latter topic,...
FDA Approves AveXis’ Gene Therapy Zolgensma to Treat SMA in Children Up to Age 2
Zolgensma, a first gene therapy for spinal muscular atrophy — and first for any chronic neurologic disease — is now an approved and potential “one-time” intravenous treatment for pre-symptomatic newborns through 2-year-olds with any type of SMA, the U.S. Food and Drug...
Two Mutations Seen to Help Identify SMA Carriers, Allowing Better Family Counseling
Two specific mutations may help in identifying people who are carriers of spinal muscular atrophy (SMA) — those who do not have the disease but can pass it to children — and should be aware before starting a family, a study from Spain reports. The study, “Utility of...
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