Rare Diseases
Article
Rare Disease Film Festival Is Planned
Article
Join the National Organization for Rare Disorders and the University of Massachusetts for Two Upcoming CME-Accredited Events
From the Journals
Rapid genomic testing can diagnose critically ill infants
Rapid, targeted genomic sequencing shows promise in quickly diagnosing critically ill infants for whom standard clinical work-ups were...
Conference Coverage
Targeted therapy may be possible for pityriasis rubra pilaris
CHICAGO – The discovery of the CARD14 mutation as the cause of the familial variant “brings us closer to an understanding of juvenile PRP,” and to...
Conference Coverage
Developing vaccines against enterovirus-A71 called a priority
MADRID - Multivalent vaccine would be best.
Conference Coverage
New genetic causes of ichthyoses likely to emerge
Researchers are only beginning to scratch the surface on their understanding of the genetic causes of ichthyosis and ichthyosis syndromes.
Commentary
Opening the door to gene editing?
Designer babies are not around the corner.