Read NMD4C and MDC Postdoc Fellowship Recipient Dr. Emanuela Pannia’s Early-Career Blog
“My inspiration to pursue a research career in rare diseases stems from the loss of my sister at the early age of 12 years. At the time, she was one of North America’s first patients with a diagnosis of a rare genetic liver disease. It is through this experience that I have seen the dedication, compassion, innovation, and interdisciplinary collaboration that is needed to support patients with rare diseases, as well as their families.“
Dr. Emanuela Pannia is one of the recipients of the NMD4C and MDC postdoctoral research fellowships for 2022. She is currently a first-year Post-doc in Dr. Jim Dowling’s lab in the Department of Genetics & Genomic Biology at SickKids. Her project focus is on determining the environmental and genetic modifiers of liver dysfunction in X-linked myotubular myopathy using various translational models with the overall goal of developing personalized therapeutic options to protect against this devastating disease consequence.