Rare Diseases
News
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.
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.”
Latest News
With sleuth work, pediatricians can identify genetic disorders
For pediatricians, the process of deciding whether to refer a patient to a geneticist may entail ruling out nongenetic causes, considering patient...
Latest News
Lasker awardee pioneered prenatal DNA testing
With the commercial launch of noninvasive prenatal testing in 2011, health care centers around the world quickly embraced the technology as a safe...
Feature
Increasing primary care doctors’ knowledge of IPF could speed up diagnoses, suggests white paper
Nonspecific symptoms of IPF may prompt primary care providers to pursue other assessment pathways.
Latest News
Shift in child hospice care is a lifeline for parents seeking a measure of comfort and hope
Under a provision of the 2010 Affordable Care Act, children enrolled in Medicaid or the Children’s Health Insurance...
Latest News
Uncombable hair syndrome: One gene, variants responsible for many cases
A deficiency in the shaping and mechanical strengthening of the hair shaft occurs in the UHS phenotype, which is characterized by dry, frizzy, and...
Latest News
AAP guidance helps distinguish bleeding disorders from abuse
Laboratory testing of bleeding cannot always rule out abuse, just as a history of trauma may not rule out a bleeding disorder or other medical...
From the Journals
Ketamine promising for rare condition linked to autism
Using parent-report instruments to assess treatment effects, ketamine was associated with “nominally significant” improvement in a variety of...
News from the FDA/CDC
CDC warns of enterovirus strain linked to polio-like condition
The advisory also urged providers to “strongly consider AFM in patients with acute flaccid limb weakness, especially after respiratory illness or...
News from the FDA/CDC
FDA approves first gene therapy, betibeglogene autotemcel (Zynteglo), for beta-thalassemia
The one-time gene therapy represents a potential cure in which functional copies of the mutated gene are inserted into patients’ hematopoietic...