Improve management of MADD patients: a curated database with clinical, molecular and cellular information

Investigador: Bárbara J. Henriques
Ph.D., APhD Senior Researcher, BioISI – Biosystems & Integrative Science Institute Faculty of Sciences, University of Lisbon

In this project we propose to contribute to this societal demand, with tremendous impact in the development of new therapeutic approaches, by organizing a curated database with detailed information on mutations associated to Multiple Acyl-CoA dehydrogenase Deficiency (MADD), combining molecular, cellular, and clinical data. The team will build the curated database integrating existing molecular and clinical data with new cellular information from MADD-derived cells. Till date cellular models have been limited to MADD derived fibroblast, that not fully mimic the affected tissues, so here we will implement a novel cellular model for MADD using a commercial muscle cell line. These cellular studies will establish the  influence of MADD associated mutations in mitochondrial dysfunction and in the mitometabolome, a so far overlooked aspect in MADD, and give new insights in MADD development. Furthermore, with the database fully functional we will also build a web-based platform manageable to clinicians and researchers, providing the ability to interact and develop work in this area of research. The platform will function both as a search-based tool and additionally registered users will be able to introduce new validated data.