Genetics and Sensorineural Pathophysiology
Group leaders
Miguel Ángel Moreno Pelayo
Matías Morín Rodríguez
mmorenop(ELIMINAR)@salud.madrid.org
Principal Investigator
- Francisco Javier del Castillo Fernández del Pino
- Ignacio del Castillo Fernández del Pino
Collaborating Staff
- Yolanda Martín Santo Domingo
- Ana María Valero Rubio
- Manuela Villamar López
- Verónica Barca Tierno
- María Domínguez Ruiz
- Concepción Villalón Villarroel
- Eva María García Galloway
- Patricia Fernández San José
- Lucía Soletto Esteban
- Irene Garcia Vaquero
- Natalia Sannikova
- Sandra Pérez Rial
- Marta Pacio Mínguez
- Patricia Rodríguez Solana
- Elena Rodríguez de Tiedra
- Irene Vázquez Domínguez
- Maria del Pilar Lopez Nieva
Principal Investigator
- Francisco Javier del Castillo Fernández del Pino
- Ignacio del Castillo Fernández del Pino
Collaborating Staff
- Yolanda Martín Santo Domingo
- Ana María Valero Rubio
- Manuela Villamar López
- Verónica Barca Tierno
- María Domínguez Ruiz
- Concepción Villalón Villarroel
- Eva María García Galloway
- Patricia Fernández San José
- Lucía Soletto Esteban
- Irene Garcia Vaquero
- Natalia Sannikova
- Sandra Pérez Rial
- Marta Pacio Mínguez
- Patricia Rodríguez Solana
- Elena Rodríguez de Tiedra
- Irene Vázquez Domínguez
- Maria del Pilar Lopez Nieva
Strategic objectives
- Identification of new genes associated with inherited pathologies in hearing loss, anterior segment eye diseases, lysosomal storage diseases, autoinflammatory syndromes, and other rare diseases.
- Performance of functional assays and generation of cellular and murine models for the study of associated pathogenesis mechanisms.
- Generation of iPSC-derived cell models from patients (and controls) to identify disease biomarkers.
- Development, validation, and commercialization of diagnostic tools based on next-generation sequencing and microarrays. Design of clinical guidelines for the group of rare diseases under investigation.
- Collaborations with companies for the development of advanced therapies.
Research lines
- Spinal muscular atrophy.
- Genetic basis of tuberous sclerosis.
- Genetic and molecular basis of Chiari malformation.
- Hereditary basis of glaucoma and anterior segment eye pathology.
- Hereditary retinal dystrophies.
- Hereditary hearing loss (syndromic and non-syndromic).
- Lysosomal storage diseases.
- Autoinflammatory syndromes.
- Primary immunodeficiencies associated with the TCR/CD3 complex and DNA repair defects.
- MicroRNA cure: modulation of microRNAs to eliminate latency reservoirs in HIV-infected patients.
- Neurofibromatosis type 1 and 2, and neuro-cardiofacial-cutaneous syndromes.
Location
Ramón y Cajal University Hospital
Genetics Department
Outpatient Clinic Building, Ground Floor
Keywords
Rare diseases, genetically based pathology, massive sequencing, CGH microarrays, functional assays, transgenic mice, genomics