Joint research unit on 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.

Group leader:

Jose Maria Millan Salvador



  • Jose Maria Millan Salvador

Associated Researcher

  • Elena Maria Aller Mañas
  • Teresa Jaijo Sanchis


  • Maria Jose Aparisi Navarro
  • Gema Garcia Garcia
  • Regina Rodrigo Nicolas
  • Ana Rodriguez Muñoz
  • Rafael Vazquez Manrique


  • Carla Fuster Garcia
  • Ana Pilar Gomez Escribano
  • Elisa Gonzalez Romero
  • Lorena Olivares Gonzalez


  • María Dolores Sequedo Perez