Mitochondrial Medicine and Inherited Metabolic Programme

Rare Diseases studied:

• Inherited metabolic disorders: abnormalities in the metabolism of amino acids, lipids, vitamins, cofactors, and energy pathways, including lysosomal, peroxisomal, and neurometabolic diseases.
• Mitochondrial disorders: defects in oxidative phosphorylation (OXPHOS), encephalomyopathies, syndromes due to mutations in nuclear or mitochondrial genes, and alterations in mitochondrial complex assembly.

Objective:
To define the genetic basis and pathophysiology of these diseases, assess current treatments, and develop innovative therapies, including chaperones, small molecules, and gene therapy.

Scientific Coordinator:Pujol Onofre, Aurora

Full member groups constituting the Research Program:

1.  Artuch Iriberri, Rafael – U703
2.  Castaño González, Luis – U725A
3.  Garrabou Tornos, Gloria – U722
4.  Martí, Ramón Seves – U701
5.  Martín Casanueva, Miguel Ángel – U723
6.  Marina Moreno, Alberto – U739
7.  Palacín, Manuel – U731
8.  Pérez González, Belén – U746
9.  Pujol Onofre, Aurora – U759
10.  Ruiz Pesini, Eduardo – U727
11.  Santos Ocaña, Carlos – U729

Associated Clinical groups constituting the Research Program:

1.  Cantarín Extremera, Verónica – GCV23/ER/3
2.  Couce Pico, María de la Luz – GCV14/ER/5
3.  de las Heras Montero, Javier Adolfo – GCV14/ER/10
4.  López Laso, Eduardo – GCV14/ER/7
5.  Riancho Moral, José Antonio – GCV23/ER/1
6.  Soto Moreno, Alfonso – GCV14/ER/15