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Expanding knowledge of the porphyrias by developing new strategies and methods for diagnosis, treatment, and prevention of illness and disability.



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Join RDCRN at Rare Disease Day at NIH on February 28

Don’t miss the in-person and virtual celebration of Rare Disease Day at NIH on Tuesday, February 28, 2023, from 9 am to 5 pm EST. Each year, the NIH’s National Center for Advancing Translational Sciences (NCATS) and the NIH Clinical Center sponsor the event as part of the global Rare Disease Day observance.

Rare Disease Day at NIH. February 28, 2023. #RDDNIH.

Senior Researcher Spotlight: Mohamed Kazamel Investigates Autonomic Neuropathy in the Porphyrias

Mohamed Kazamel, MD, is an associate professor of neurology at the University of Alabama at Birmingham (UAB). He serves as director of the UAB Autonomic Testing Laboratory and assistant director of the Shin J. Oh Muscle and Nerve Histopathology Laboratory. Dr. Kazamel is also the sole neurologist member of the Porphyrias Consortium (PC). His research focuses on investigating the characteristics of autonomic neuropathy in acute hepatic porphyrias (AHPs). Here, he shares his start in rare disease research, exciting discoveries, and future goals.

Headshot of Mohamed Kazamel, MD

Training Program for Clinical Research in Rare Disease Launches New Session

The National Institutes of Health-funded R25 Rare Disease Clinical Research Training Program is launching a new training program for clinical research in rare disease. Now in its seventh year, this year-long, hybrid, free program is designed to support new investigators in the field of rare disease clinical research.

Screenshot from a presentation on the Rare Diseases Research R25 Curriculum Grant

PC Pilot and Feasibility Program

The Porphyria Consortium provides a novel support mechanism for trainees, postdocs, and junior faculty who want to pursue new directions in porphyria. The PC leadership welcomes applicants from across the U.S. and will strive to provide a rapid review and constructive comments for applicants.