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 

Congenital Absence of MUC5B Defines New Category of Genetic Respiratory Disease and More: RDCRN Research Roundup Dakota Campbell Mon, 04/18/2022 - 15:11
Scientist examining samples in the lab

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

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: 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.

RDCRN Research Roundup: January 2022 Dakota Campbell Fri, 01/21/2022 - 10:10
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.