Rare diseases and patients without diagnosis. Geneticist Bruno Dallapiccola in Trento

There are few patients for each (rare) disease, but put together they become many. In the past, a “rarity” in medicine was synonymous with lack of research and adequate therapy. Many things have changed in recent years and the topic in the medical field has posed many methodological, ethical and clinical challenges that cross all the fields of intervention and care and arrive directly to the patient. This, and the clinical and genomic approach, will be discussed in the lecture by the famous geneticist Bruno Dallapiccola on Thursday, November 8, at 3:00 pm, in the Aula Magna (A101) of the CIBIO (Center for Integrative Biology) Department of the University of Trento, via Sommarive n.5 (Ferrari 1), Povo (TN). The meeting, organized by the “FBK for Health” program of Trento-based Fondazione Bruno Kessler, is open to all interested citizens and participation is free.

Bruno Dallapiccola, one of the most experienced geneticists in the world, is the scientific director of the Bambino Gesù Pediatric Hospital and the Italian coordinator for Orphanet, an international project that brings together and increases knowledge on rare diseases, with the aim of improving diagnosis, management and treatment of patients with rare diseases.

He has been a Professor of Medical Genetics at the University “La Sapienza” of Rome, Director of the “Casa Sollievo della Sofferenza” IRCCS (Clinical care and scientific research Institute) of San Giovanni Rotondo, Scientific Director of the Mendel Institute; he is a member of the National Bioethics Committee.

In 1976, he set up the first prenatal diagnosis service in Rome; he has founded and coordinated several hospitals, universities and laboratories for genetic diagnosis. Author of over 700 publications in international journals, his research activity has mainly focused on the understanding of the causes, at a molecular level, of rare diseases, with specific contributions in the field of cytogenetics and in the mapping of multiple genes.

Program

When: Thursday, November 8, 2018
Where: Aula Magna (A101) CIBIO (Center for Integrative Biology UniTn)
Via Sommarive n.5 (Polo Ferrari 1), Povo (TN)

3:00 pm | Opening with Alessandro Quattrone and Antonella Graiff

• Presentation of the Lectio with Gianfranco Gensini
• “The rarest among the rare: clinical and genomic approach to patients without diagnosis” Lectio Magistralis by Bruno Dallapiccola

4:30 pm| Conclusion
Meeting with the students of General Medicine

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