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Prof Giovanna Zambruno
Institution(s): Bambino Gesù Children’s Hospital, Rome, Italy
Research focus: Over the past 25 years, I have been involved in studies on molecular genetics and genotype-phenotype correlation in genetic skin diseases, in particular inherited epidermolysis bullosa (EB).
What are your own areas of research, and what insights do these give you on EB?
I am currently investigating pathogenetic aspects of a recently discovered subtype of EB simplex due to mutations in the KLHL24 gene: the studies on this subtype of EB have led to a more appropriate follow-up of affected individuals who frequently develop cardiac complications in adulthood. In parallel, I am involved in studies on the epigenetic regulation of fibrosis in recessive dystrophic EB with the aim to identify novel therapeutic approaches to counteract fibrotic scarring and to improve disease course.
Where do you see the biggest contributions research can make to improving options for people with EB?
Thanks to research progress, nowadays almost all people with EB can get an accurate and prompt diagnosis, with relevant implications for prognostication and prenatal testing. In parallel, major advances in understanding EB molecular genetics and pathogenesis, combined with availability of EB animal models, have allowed the development of a wide range of novel therapeutic approaches, that comprise gene-, protein- and cell-therapies as well as small molecules and drug repurposing. Several of these treatment modalities, which are already at the stage of clinical development, hold promise, as attested by the growing interest of pharma and biotech companies. Thus, it appears reasonable to predict that novel treatment modalities effective against specific disease manifestations will be available shortly.
What are the current most urgent research questions, both in basic knowledge and translational research?
Despite major progress, a number of research questions are still pending. Although it is difficult to prioritize, important ones concern the mechanisms and regulation of fibrosis and inflammation which are major determinants of disease course and are implicated in cancer development. More in-depth knowledge of cancer development is also a prerequisite in order to develop novel approached for early diagnosis and to design strategies to counteract it. Then, main questions to be addressed in a near future will concern how to effectively combine the different therapeutic approaches that will become available in a personalized medicine perspective. Finally, attention should be paid to less common EB subtypes to avoid to make additional orphan diseases.
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?
As a member of DEBRA Expert Panel I have greatly appreciated the possibility to discuss with internationally renowned scientists and clinicians from the EB field most recent research developments as well as to strengthen old collaborations and plan novel ones in a friendly and informal atmosphere and at beautiful locations. This has been particularly true prior to pandemics and, hopefully, will be again shortly.