Laboratory technician looks through a microscope in a medical laboratory
Predicting Drugs and Chemicals that May Induce Porphyric Attacks in Patients with Acute Hepatic Porphyrias and More: RDCRN Research Roundup
May 16, 2022

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
porphyrias
mitochondrial diseases
neurodegeneration
Two researchers in the lab looking at a tablet
Study Finds ABCB6 Genotype Does Not Correlate with Disease Severity in Porphyria Phenotype and More: RDCRN Research Roundup
April 26, 2022

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
porphyrias
adrenomyeloneuropathy
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.

Porphyrias Consortium
PC
porphyrias
Patient Advocacy
Patient Stories
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