New Research

Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research.

Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research below.

New research: Predicting drugs and chemicals that may induce porphyric attacks in patients with acute hepatic porphyrias; Expanding the spectrum of NFS1-related mitochondrial disorders; Novel biallelic NRROS variants associated with severe neurodegeneration 

New research: Bi-allelic NOTCH3 variants may cause early-onset vascular leukoencephalopathy; Review discusses sphingolipids in kidney diseases; Chest x-rays alone may not detect organ laterality defects in primary ciliary dyskinesia 

New research: Study finds ABCB6 genotype does not correlate with disease severity in porphyria phenotype; Tracking progression of sensorimotor outcomes in adrenomyeloneuropathy; Review examines tremor in dystonia

New research: Congenital absence of MUC5B defines new category of genetic respiratory disease; A roadmap to ALS prevention: Lessons from pre-symptomatic ALS and other neurodegenerative diseases; Close follow-up benefits long-term management of eosinophilic esophagitis