![]() |
Improve management of MADD patients: a curated database with clinical, molecular and cellular information Investigador: Bárbara J. Henriques 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. |
|
CONTACTOS
Faculdade de Farmácia da U.L.
Av. Prof. Gama Pinto
1649-003 Lisboa
Portugal
Contacto: Fernanda Asper
Telefone.: +351 217 946 400
(Chamada para a rede fixa nacional)
Fax: +351 217 946 491
spdm@ff.ul.pt
Subscreva a newsletter da SPDM - Sociedade Portuguesa de Doenças Metabólicas
Newsletter