Neuromed IRCCS
Diego Centonze
The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols. The study will be conducted through the application of complementary experimental strategies, ranging from the clinical, genetic and molecular characterization of the pathology to the search for rare variants and the development of cellular disease models.
Rare Diseases
Clinical evaluation of patients and relatives High throughput analysis of genetic variants in genome exomes Genotype-phenotype association testing Identification of genetic risk variants for rare diseases}}
| Study Type : | Observational |
| Estimated Enrollment : | 300 participants |
| Official Title : | Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power |
| Actual Study Start Date : | October 31, 2019 |
| Estimated Primary Completion Date : | July 31, 2021 |
| Estimated Study Completion Date : | July 31, 2022 |
Information not available for Arms and Intervention/treatment
| Ages Eligible for Study: | |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Accepts Healthy Volunteers |
Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.
Not yet recruiting
IRCCS Neuromed
Pozzili, Italy, 86077