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Università degli Studi di Bologna Alma Mater Studior Facoltà di Ingegneria TESI DI DOTTORATO DI RICERCA IN Bioingegneria Melillo Paolo Dottorando: Melillo.

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Presentation on theme: "Università degli Studi di Bologna Alma Mater Studior Facoltà di Ingegneria TESI DI DOTTORATO DI RICERCA IN Bioingegneria Melillo Paolo Dottorando: Melillo."— Presentation transcript:

1 Università degli Studi di Bologna Alma Mater Studior Facoltà di Ingegneria TESI DI DOTTORATO DI RICERCA IN Bioingegneria Melillo Paolo Dottorando: Melillo Paolo COORDINATORE: Prof. Maria Triassi Titolo

2 Abstract Evaluation of efficacy of gene therapy for Leber’s Congenital Amaneurosis Case study: legally blinded patients affected by Leber’s Congenital Amaneurosis (LCA) who undergo genetic treatment (clinical trials number NCT : 12 patients, September July 2024). Goals:a) to develop objective techniques for the clinical effectiveness of gene therapy; b) to investigate brain function in human subjects following recovery of retinal function after a long period of visual deprivation; c) early stage Health Technology Assessment Methods: a) pattern recopgnition and data-mining applied to fMRI, pupillometry, electroretinogram, autofluoroscence: GA, CART, NN, etc. b) early stage HTA: horizon scanning, headroom, analytic hierarchy process etc. Partners:Department of Opthalmology, Second university of Naples (Prof.ssa Francesca Simonelli); University of Pennsylvania (Dr Jean Bennet, Dr Manzar Ashtari). Biostructure and Bioimaging Institute of Naples, CNR (ing. Anna Prinster); The University of Nottingham (ing. Leandro Pecchia). Activity 2: Management Information System to support genetic diagnosis / gene therapy Goal: to develop a MIS to support genetic diagnosis, definition of phenotypes, and choice of best candidates for gene therapy Method: Pattern recognition techniques applied to biomedical data, signals and images

3 Goals  Develop a central registry/repository for ocular diseases caused by genetic mutations  to improve the cooperation and coordination among groups that provide genetic diagnostic information to the clinician and patient;  to maintain data banks of genotype-phenotype information.  to locate / identify patients who may wish to participate in clinical trials for new therapies and who could be good candidates for the gene therapy;  to create the larger datasets necessary to identify novel genetic risk factors and answer other epidemiologic questions.

4 Overview of the service

5 Gaant

6 Remote processing for CHF Part 2: Methods of PR for CHF assessment IntroductionMethods and MaterialsResultsDiscussion


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