María José Aparisi Navarro
Gema García García
Rafael Vazquez Manrique
Elena Aller Mañas
Teresa Jaijo Sanchis
Carla Fuster García
Elisa González Romero
Ana Pilar Gómez Escribano
Lorena Olivares González
Ana Rodríguez Muñoz
Mª Dolores Sequedo Pérez
CIPF-IISLAFE Joint Research Unit of Rare Diseases
This research group arose with the objective of, through the collaboration of clinical and basic investigators, to deepen into the knowledge of the physiology, genetics and clinic of rare diseases.
The group has a clear translational vocation, seeking the immediate application of the research results to the clinical.
In addition, we intend to deepen our understanding of the underlying pathogenesis of other rare diseases, and especially of those disorders affecting sense organs, neurodegenerative and neuromuscular diseases.
The main objectives of the group are:
- to determine the genetic defect underlying diseases that affect hearing and vision by identifying the responsible mutations in the involved genes.
- to contribute to the knowledge of the biological mechanisms involved in these processes.
- to develop databases of patients to create homogeneous groups of patients likely to participate in future clinical trials and to establish genotype-phenotype correlations and a correct prognosis.
- to identify new genes involved in these diseases.
- to develop animal models of them. Evaluation of molecules with possible therapeutic effect in these animal models.
AMPK activation protects from neuronal dysfunction and vulnerability across nematode, cellular and mouse models of Huntington's disease.
Vázquez-Manrique RP, Farina F, Cambon K, Dolores Sequedo M, Parker AJ, Millán JM, Weiss A, Déglon N, Neri C
Human molecular genetics , 2016 Mar 15, vol. 25, pag. 1043-58
cGMP-Phosphodiesterase Inhibition Prevents Hypoxia-Induced Cell Death Activation in Porcine Retinal Explants.
Olivares-González L, Martínez-Fernández de la Cámara C, Hervás D, Marín MP, Lahoz A, Millán JM, Rodrigo R
PloS one , 2016, vol. 11, pag. e0166717
Adalimumab Reduces Photoreceptor Cell Death in A Mouse Model of Retinal Degeneration.
Martínez-Fernández de la Cámara C, Hernández-Pinto AM, Olivares-González L, Cuevas-Martín C, Sánchez-Aragó M, Hervás D, Salom D, Cuezva JM, de la Rosa EJ, Millán JM, Rodrigo R
Scientific reports , 2015 Jul 14, vol. 5, pag. 11764
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Aparisi MJ, Aller E, Fuster-García C, García-García G, Rodrigo R, Vázquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millán JM
Orphanet journal of rare diseases , 2014 Nov 18, vol. 9, pag. 168
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
Sivera R, Sevilla T, Vílchez JJ, Martínez-Rubio D, Chumillas MJ, Vázquez JF, Muelas N, Bataller L, Millán JM, Palau F, Espinós C
Neurology , 2013 Oct 29, vol. 81, pag. 1617-25