Rare Diseases
Guidelines
First recommendations for cancer screening in myositis issued
The guideline, based on data from a systematic review and meta-analysis and on consensus from an international team of experts and patients,...
Latest News
Treating deadly disease in utero called ‘revolutionary’ advance
The patient in the new report received six prenatal enzyme-replacement therapy treatments.
From the Journals
Goodbye ‘diabetes insipidus’, hello ‘AVP-D’ and ‘AVP-R’
Confusion with the term ‘diabetes mellitus’ ... has spurred proposed name change by an international panel representing major endocrinology...
News
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
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...
News
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...
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...
News
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...
News
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.”
News
Novel gene-based therapies for neuromuscular diseases
Novel gene-based therapies show significant potential for transforming the treatment of neuromuscular diseases.