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:
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
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 NCT00516477: 12 patients, September 2007- 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
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.