Rare Diseases
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The paradox of Pompe disease
For nearly 2 decades, patients with even the most severe genetic mutations have been surviving on therapy. But clinicians must now contend with...
News
Rett syndrome: Looking to the future and the promise of gene therapy
Rett syndrome is entering an exciting stage – at which the words “treatment” and “cure” can be spoken with intent and vision, not just wide-eyed...
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Rare disease patient advocacy groups empowered by data
On the IAMRARE platform, patient advocacy organizations are trained to conduct observational research and host natural history.
News
Spinal muscular atrophy: Patient care in the age of genetically targeted therapy
Newborn screening, updated treatment guidelines, and treatment algorithms have changed what can be clinically done for patients with SMA, but...
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The broad and challenging – but promising – landscape of peripheral neuropathy
This review of peripheral neuropathy summarizes the more common causative entities, diagnostic tools, and treatments to prevent, slow, or reverse...
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NORD Rare Disease Centers of Excellence: A new network seeks to break down barriers in rare disease care
“The goal was to find places that could help with unanswered questions, whether diagnostic questions or treatment questions.”
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Novel gene-based therapies for neuromuscular diseases
Novel gene-based therapies show significant potential for transforming the treatment of neuromuscular diseases.
News
Staying alert for patients with narcolepsy
The chronic neurologic disorder entails not only excessive sleepiness but also social and professional challenges.
News
Myasthenia gravis: Finding strength in treatment options
Although treatment might have once been considered stagnant, newer expert consensus and novel research are generating optimism for innovative...
Latest News
Combination of energy-based treatments found to improve Becker’s nevi
The study is the largest known case series of therapy combining 1,550-nm nonablative fractional resurfacing for patients with Becker’s nevus with...
Latest News
With sleuth work, pediatricians can identify genetic disorders
For pediatricians, the process of deciding whether to refer a patient to a geneticist may entail ruling out nongenetic causes, considering patient...