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Perspectives on Rare Disease Research – An interview with Dr. Tiina Urv, the ORDR Program Director for the RDCRN

Dr. Sahin: How has your past career prepared you for this position?

Dr. Urv: Prior to coming to the NIH, I worked first at the New York State Institute for Basic Research in Developmental Disabilities (IBR), and at the University of Massachusetts Medical School. My education focused on intellectual and developmental disabilities. My own research background and interest before I came to the NIH was Alzheimer’s Disease in individuals with Down syndrome.

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.