porphyrias | Rare Diseases Clinical Research Network

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

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

August 02, 2021

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.

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The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). The RDCRN websites are hosted by the network’s Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS) under grant number TR002818.