Genetics and sensorineural pathophysiology
Group leader
Miguel Ángel Moreno Pelayo
mmorenop(ELIMINAR)@salud.madrid.org
Principal Investigator
- Francisco Javier del Castillo Fernández del Pino
- Ignacio del Castillo Fernández del Pino
- Matías Morín Rodríguez
Collaborating Staff
- Yolanda Martín Santo Domingo
- Ana María Valero Rubio
- Manuela Villamar López
- Verónica Barca Tierno
- María Lachgar Ruiz
- Concepción Villalón Villarroel
- Eva María García Galloway
- Patricia Fernández San José
- Sergio Fernández Peñalver
- Lucía Soletto Esteban
- Irene Garcia Vaquero
- Natalia Sannikova
- Sandra Pérez Rial
- Marta Pacio Mínguez
- Patricia Rodríguez Solana
- Elena Rodríguez de Tiedra
- María Domínguez Ruiz
- Irene Vázquez Domínguez
Principal Investigator
- Francisco Javier del Castillo Fernández del Pino
- Ignacio del Castillo Fernández del Pino
- Matías Morín Rodríguez
Collaborating Staff
- Yolanda Martín Santo Domingo
- Ana María Valero Rubio
- Manuela Villamar López
- Verónica Barca Tierno
- María Lachgar Ruiz
- Concepción Villalón Villarroel
- Eva María García Galloway
- Patricia Fernández San José
- Sergio Fernández Peñalver
- Lucía Soletto Esteban
- Irene Garcia Vaquero
- Natalia Sannikova
- Sandra Pérez Rial
- Marta Pacio Mínguez
- Patricia Rodríguez Solana
- Elena Rodríguez de Tiedra
- María Domínguez Ruiz
- Irene Vázquez Domínguez
Strategic objectives
- Identification of new genes associated with hereditary pathology in hypoacusias, pathology of the anterior segment of the eye, autoinflammatory syndromes and other rare diseases.
- Performance of functional assays and generation of cell and mouse models for the study of the associated mechanisms of pathogenesis.
- Development, validation and transfer to the market of diagnostic tools based on next-generation sequencing and microarrays.
- 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.
- 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.
- SAPHO syndrome (chronic recurrent multifocal osteomyelitis).
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