Genetics and sensorineural pathophysiology

Group leader

Miguel Ángel Moreno Pelayo

mmorenop(ELIMINAR)@salud.madrid.org

Principal Investigators

  • Francisco Javier del Castillo Fernández del Pino
  • Ignacio del Castillo Fernández del Pino
  • Concepción Hernández Chico
  • Yolanda Martín Santo Domingo

Collaborators

  • Matías Morín Rodríguez
  • Ana María Valero Rubio
  • Manuela Villamar López
  • Verónica Barca Tierno
  • María Lachgar Ruiz
  • María Domínguez Ruiz
  • Dolores Rey Zamora
  • Concepción Villalón Villarroel
  • Eva María García Galloway
  • Patricia Fernández San José
  • Sergio Fernandez Peñalver
Imagen equipo

Group leader

Miguel Ángel Moreno Pelayo

mmorenop(ELIMINAR)@salud.madrid.org

Principal Investigators

  • Francisco Javier del Castillo Fernández del Pino
  • Ignacio del Castillo Fernández del Pino
  • Concepción Hernández Chico
  • Yolanda Martín Santo Domingo

Collaborators

  • Matías Morín Rodríguez
  • Ana María Valero Rubio
  • Manuela Villamar López
  • Verónica Barca Tierno
  • María Lachgar Ruiz
  • María Domínguez Ruiz
  • Dolores Rey Zamora
  • Concepción Villalón Villarroel
  • Eva María García Galloway
  • Patricia Fernández San José
  • Sergio Fernandez Peñalver

Strategic objectives

  1. Identification of new genes associated with hereditary pathology in hypoacusias, pathology of the anterior segment of the eye, autoinflammatory syndromes and other rare diseases.
  2. Performance of functional assays and generation of cell and mouse models for the study of the associated mechanisms of pathogenesis.
  3. Development, validation and transfer to the market of diagnostic tools based on next-generation sequencing and microarrays.
  4. Design of clinical guidelines for the rare diseases group.

Research lines

  • Spinal muscular atrophy.
  • Genetic basis of tuberous sclerosis.
  • Genetic and molecular basis of Chiari malformation.
  • Hereditary basis of glaucoma and of the pathology of the anterior segment of the eye.
  • Hidradenitis suppurativa.
  • Hereditary hypoacusias (syndromic and non-syndromic).
  • Autoinflammatory syndromes.

Location

Outpatient clinic building 

Ground floor
Genetics Service
Ramón y Cajal University Hospital

Keywords

rare diseases, genetic pathology, massive sequencing, microarray-based CGH, functional assays, transgenic mice