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 

Occupational Lead Exposure is Associated with Shorter Survival in ALS and More: RDCRN Research Roundup Dakota Campbell Mon, 05/09/2022 - 20:51
Scientist working on a computer in a lab

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

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