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 

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

Patient Advocate Spotlight: Kristen Wheeden Steps into Lead Role for RDCRN Patient Groups sheila.wolfer@… Mon, 08/02/2021 - 21:09
Kristen Wheeden and her son, Brady
Kristen Wheeden and her son, Brady

Kristen Wheeden is executive director of the American Porphyria Foundation. In this interview, she describes how her son’s diagnosis drew her to patient advocacy. Wheeden is also the incoming chair of the Rare Diseases Clinical Research Network (RDCRN)’s Coalition of Patient Advocacy Groups (CPAG), after serving last year as co-chair.