Rare Diseases
Rare Diseases Report 2022
Health care providers should have higher suspicion for rare diseases
Learning to recognize when a cluster of symptoms doesn’t fit a pattern is important, as patients and their providers tend to gravitate toward...
Rare Diseases Report 2022
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...
Rare Diseases Report 2022
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...
Rare Diseases Report 2022
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...
Rare Diseases Report 2022
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.”
Rare Diseases Report 2022
The urgent need to diagnose Sanfilippo syndrome at an early age
The quest for effective treatments is dependent on enrolling more children at a very young age, before loss of milestones.
Rare Diseases Report 2022
Novel gene-based therapies for neuromuscular diseases
Novel gene-based therapies show significant potential for transforming the treatment of neuromuscular diseases.
Rare Diseases Report 2022
Staying alert for patients with narcolepsy
The chronic neurologic disorder entails not only excessive sleepiness but also social and professional challenges.
Rare Diseases Report 2022
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...
Rare Diseases Report 2022
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...
FDA/CDC
ALS drug gets FDA panel thumbs-up after rare second look
FDA officials in the meeting stressed the importance of considering unmet medical need in ALS in the panel’s decision-making process.