RDCRN Research Roundup: June 2022 Dakota Campbell Wed, 06/01/2022 - 14:03
Rare Diseases Clinical Research Network logo with text: Research Roundup, #RDCRN

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

Predicting Drugs and Chemicals that May Induce Porphyric Attacks in Patients with Acute Hepatic Porphyrias and More: RDCRN Research Roundup Dakota Campbell Mon, 05/16/2022 - 15:02
Laboratory technician looks through a microscope in a medical laboratory

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 

Bi-Allelic NOTCH3 Variants May Cause Early-Onset Vascular Leukoencephalopathy and More: RDCRN Research Roundup Dakota Campbell Tue, 05/03/2022 - 11:10
Scientists using microscopes in the laboratory

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 

Study Finds ABCB6 Genotype Does Not Correlate with Disease Severity in Porphyria Phenotype and More: RDCRN Research Roundup Dakota Campbell Tue, 04/26/2022 - 09:24
Two researchers in the lab looking at a tablet

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

Characterizing Repetitive Behaviors in Phelan-McDermid Syndrome and More: RDCRN Research Roundup Dakota Campbell Tue, 04/12/2022 - 10:45
Scientist examining samples in the lab

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

RDCRN Research Roundup: April 2022 Dakota Campbell Mon, 04/04/2022 - 13:05
Research Roundup. #RareDiseasesSpotlight. Rare Diseases Clinical Research Network

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

RDCRN Research Roundup: March 2022 Dakota Campbell Wed, 03/02/2022 - 12:57
Research Roundup. #RareDiseasesSpotlight. Rare Diseases Clinical Research Network

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

RDCRN Research Roundup: February 2022 Dakota Campbell Thu, 02/03/2022 - 09:55
Research Roundup. #RareDiseasesSpotlight. Rare Diseases Clinical Research Network

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