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Prof Fulvio Mavilio

Institution(s): Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy

Research focus: Gene therapy for genetic diseases

What are your own areas of research, and what insights do these give you on EB? 

I work on developing genetic medicines based on genetically modified stem cells. There is clinically proof of concept that EB is potentially treatable with this form of medicine. I worked in the past on the development of vectors that efficiently correct the junctional forms of EB.

Where do you see the biggest contributions research can make to improving options for people with EB?

Transplantation of genetically modified skin is a promising treatment for many forms of EB. The existing technology, however, is complex, labor-intensive and difficult to translate into commercial treatments. There is urgent need to develop robust, safe and scalable manufacturing technology for gene therapy for EB to become a reality.

What are the current most urgent research questions, both in basic knowledge and translational research? 

Better understanding of the biology and pheotype of epithelial stem cells, and how to safely and efficiently modify their genome without impairing their repopulation capacity

DEBRA and EB Resnet members are grateful for your dedication to helping people with EB; what do you find rewarding about being a member  of EB Expert Panel?

Serving an orphan patient community that deserves more attention.

Portrait Prof Fulvio Mavilio

Prof Fulvio Mavilio

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