Rare Diseases
Article
Examining the Role of Caregivers at NINR Caregiving Summit
Article
FDA Commissioner to Present Keynote Address at NORD Summit
Article
Preview Agenda for NORD’s 2017 Rare Diseases and Orphan Products Breakthrough Summit
Conference Coverage
Screening MRI misses Sturge-Weber in babies with port-wine stain
In a small study of children with high-risk port-wine stains, MRI screening for Sturge-Weber syndrome had a false-negative rate of 23%.
Conference Coverage
Care of infants with ichthyosis requires ‘all hands on deck’
The neonatal period and early infancy are especially critical for patients with ichthyosis, because compromised barrier function increases risk...
Conference Coverage
Precise cause of pityriasis rosea remains elusive
Pityriasis rosea was recognized as early as 1798, yet its precise cause remains elusive.
From the Journals
Studies support early use of genetic tests in early childhood disorders
Two studies find that early use of whole-exome sequencing and other genetic tests spares resources and improves diagnostic yields in disorders...
Conference Coverage
Bone marrow transplantation for epidermolysis bullosa continues to evolve
Today, bone marrow transplantation is the most widely used stem cell therapy for patients with severe EB.
Conference Coverage
Supportive care alone linked to worse outcomes in mucocutaneous reactions
CHICAGO – Supportive care and surgical debridement may not be enough when treating pediatric patients with SJS/TEN.
Conference Coverage
Prior mycobacterial infection linked to Sjögren’s syndrome
MADRID – Risk highest among those aged 40-65 years.
Conference Coverage
Gene therapy for spinal muscular atrophy shows promise in early study
BOSTON – Early data show remarkable results for a gene therapy with few adverse events, in a phase I study.