Rare Diseases


– Development of cell models derived from cells of patients diagnosed with the RDs being studied obtained either through the genetic manipulation of healthy cells to mimic the mutations associated with these diseases or from animal models in order to improve the knowledge of the pathophysiology of each disease
– Discover new therapeutic targets and propose new pharmacological strategies for the treatment of these pathologies
– Promote collaboration with services of the Clinical Hospital involved in the treatment of these RDs, emphasizing primary care to improve its diagnostic potential
– Development of new diagnostic and prognostic methods
– Development of “omics” technologies to advance research in RRDD

Research Lines

– Study of the physiopathology of rare neuromuscular diseases
– Epigenetic regulation of neonatal sepsis
– Pathophysiology of telomeres
– Pathophysiology of alpha-1 antitrypsin deficiency, primary ciliary dyskinesia, childhood interstitial diseases and Prader-Willi syndrome
– Genetic and epigenetic modifiers in Friedreich’s ataxia
– Gene therapy for the treatment of rare respiratory diseases
– Design and testing of new biomarkers for rare diseases
– Characterization of the cellular and molecular mechanisms associated with the pathology of neuromuscular diseases like Myotonic Dystrophy and Friedreich’s ataxia and identification of molecular targets for the development of new therapies

Clinical Groups

Associated Clinical Group in Traumatology and Orthopedics (Dr. Antonio Silvestre Muñoz)
Cardiometabolic Research Group on Primary Care (Dr. Jorge Navarro Pérez)
Research Group on Respiratory Diseases (Dr. Jaime Signes-Costa Miñana)
Research Group on Psychiatry and Neurodegenerative Diseases (Dr. Julio Sanjuán Arias)

Experimental Groups

Group on Translational Genomics (Dr. Rubén D Artero Allepuz)
Research Group on Rare Respiratory Diseases (RRD) (Dr. Francisco Dasí Fernández)
Research Group on Epigenomics and Translational Epigenetics (Dr. Jose Luis García Giménez)
Research Group on Cellular and Organic Physiopathology of Oxidative Stress (Dr. Federico V. Pallardó Calatayud)
Research Group on Neurobiology and Molecular Physiopathology in Rare Diseases – NeuroFisER (Dra. Pilar González Cabo)

Clinical Services Associated to the Program

Department of Pediatrics
Department of Pneumology
Department of Traumatology and Orthopedic Surgery


Dr. Francisco Dasí Fernández

Dr. Federico V. Pallardó Calatayud