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. 

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: Occupational lead exposure is associated with shorter survival in ALS; Analysis of TRB repertoire helps predict outcomes of HCT in patients with severe combined immunodeficiency; Study finds high prevalence of restless legs syndrome in adults with adrenoleukodystrophy

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: Characterizing repetitive behaviors in Phelan-McDermid syndrome; Researchers describe new patients with SLC35C1 congenital disorder of glycosylation; Video captures head posture in cervical dystonia; ALS toolkit harnesses power of the electronic health record