Rare Diseases
News
FDA OKs first drug for Rett syndrome
The drug is designed to treat the core symptoms of Rett syndrome by potentially reducing neuroinflammation and supporting synaptic function.
Latest News
Maternal infection in pregnancy ups risk for childhood leukemia?
Maternal infections during pregnancy may be associated with chromosomal and immunologic alterations in the fetus, the authors of the study...
From the Journals
Antibiotics and SJS/TEN: Study provides global prevalence
Sulfonamides responsible for the highest proportion of antibiotic-triggered Stevens-Johnson syndrome and toxic epidermal necrolysis.
Feature
More data back Guillain-Barré risk with Janssen COVID shot
Observed GBS cases after the Janssen shot were 2 to 3 times greater than expected, based on background rates within 21 and 42 days of vaccination...
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Topical gene therapy heals dystrophic epidermolysis bullosa wounds
“The results prove that B-VEC, the first topical in vivo gene therapy to reach late-stage development, can heal DEB,” one of the investigators...
Feature
Have you heard of VEXAS syndrome?
The prevalence of this syndrome is unknown, but it is not so rare.
Conference Coverage
First classification criteria proposed for chronic osteomyelitis
"The goal is that the proposed classification criteria will be used by all physicians to diagnose suspected CNO patients earlier and refer to a...
Feature
Doctors urge screening for autoimmune disorders for patients with celiac disease
At least in some cases, people with one autoimmune disorder should be tested for others, celiac disease specialists say.
Conference Coverage
Combination therapy may boost remission in JIA
Study shows early methotrexate plus a biologic may aid remission and disease inactivity in pediatric polyarticular juvenile idiopathic arthritis...
Conference Coverage
Clinical signs differ between children and adults with vasculitis
Many pediatric rheumatologists believe kids with vasculitis are like small adults and should be treated similarly, but Dr. Jessica Bloom said the...
Latest News
Treating deadly disease in utero called ‘revolutionary’ advance
The patient in the new report received six prenatal enzyme-replacement therapy treatments.