Presentación    
INGEMM - INSTITUTO DE GENETICA MEDICA Y MOLECULAR (INSTITUTE OF MEDICAL AND MOLECULAR GENETICS)
Composition
Name
Composition
Institution
Pablo Daniel Lapunzina Badía
Coordinador INGEMM
Hospital Universitario La Paz
Cinthia Amiñoso Carbonero
Técnico de Laboratorio
Hospital Universitario La Paz
Pedro Arias Lajara
Técnico de Laboratorio
Hospital Universitario La Paz
Verónica Barca Tierno
Investigadora Predoctoral
Hospital Universitario La Paz
Eva Barroso Ramos
Investigadora Postdoctoral
Hospital Universitario La Paz
Alberta Belinchón Martínez
Investigadora Postdoctoral
Hospital Universitario La Paz
Sara Benito Sanz
Investigadora Postdoctoral
Hospital Universitario La Paz
Ángel Campos Barros
Investigador Senior (Contrato Miguel Servet- I2)
Jefe de Laboratorio
Hospital Universitario La Paz
Felipe de Frutos Pérez María
Técnico de Laboratorio
Hospital Universitario La Paz
Ángela del Pozo Mate
Técnico Informático
Hospital Universitario La Paz
Alicia Delicado Navarro
Genetista
Hospital Universitario La Paz
María Ángeles Domínguez Díaz
Técnico de Laboratorio
Hospital Universitario La Paz
Begoña Ezquieta Zubicaray
Bioquímico Adjunto
Hospital Universitario La Paz
Luis Fernández García-Moya
Biólogo
Hospital Universitario La Paz
Blanca Nieves Fernández Martínez
Técnico de Laboratorio
Hospital Universitario La Paz
María Victoria Fernández Montaña
Técnico de Laboratorio
Hospital Universitario La Paz
Amparo García Cardenal
Técnico de Laboratorio
Hospital Universitario La Paz
Fe Amalia García Santiago
Bióloga
Hospital Universitario La Paz
Sixto García-Miñaur Rica
Genetista
Hospital Universitario La Paz
Isabel Gómez Nieto
Técnico de Laboratorio
Hospital Universitario La Paz
Héctor González-Pecellín
Técnico de Laboratorio
Hospital Universitario La Paz
Karen Elise Heath
Investigadora Senior (Contrato Ramón y Cajal- I3).
Jefe de Laboratorio
Hospital Universitario La Paz
Teresa López Timénez
Técnico de Laboratorio
Hospital Universitario La Paz
Alicia Llorente Alonso
Técnico de Laboratorio
Hospital Universitario La Paz
María Elena Mansilla Aparicio
Genetista
Hospital Universitario La Paz
María Soledad Martín Rodríguez
Técnico de Laboratorio
Hospital Universitario La Paz
Pilar Martínez González
Bióloga
Hospital Universitario La Paz
Víctor Manuel Martínez González
Investigador Postdoctoral
Hospital Universitario La Paz
Isabel Martínez María
Enfermera
Hospital Universitario La Paz
María Cruz Martínez Martínez
Técnico de Laboratorio
Hospital Universitario La Paz
Paloma Martínez Montero
Facultativo Especialista de Área en Análisis Bioquímicos
Hospital Universitario La Paz
Jesús Molano Mateos
Jefe de Sección
Hospital Universitario La Paz
María Ángeles Mori Álvarez
Bioquímico Adjunto
Hospital Universitario La Paz
Julián Nevado Blanco
Biólogo
Hospital Universitario La Paz
María Palomares Bralo
Bióloga
Hospital Universitario La Paz
María Sol Pérez Coto
Técnico de Laboratorio
Hospital Universitario La Paz
Teresa Ramos Álvarez
Enfermera
Hospital Universitario La Paz
Sonia María Rodríguez Novoa
Facultativo Especialista de Área. Responsable del Laboratorio de Genética de las Enfermedades Metabólicas
Hospital Universitario La Paz
Víctor Luis Ruiz Pérez
Investigador Postdoctoral
IIB "Alberto Sols"
Carmen Sánchez Gómez
Técnico de Laboratorio
Hospital Universitario La Paz
Fernando Santos Simarro
Médico Adjunto de Pediatría
Hospital Universitario La Paz
Juan Carlos Silla Castro
Bioinformático de Sistemas
Hospital Universitario La Paz
Jesús Solera García
Facultativo Especialista de Área en Análisis Bioquímicos
Hospital Universitario La Paz
Constanza Solís Villa
Farmacéutica Adjunta
Hospital Universitario La Paz
María Luisa de Torres Perezhidalgo
Bióloga Adjunto
Hospital Universitario La Paz
Strategic Objective
This is a clinical and basic research team that conducts several lines of research into early diagnosis, disease mechanisms and new therapeutic strategies for genetic diseases, developmental disorders and congenital defects.
It is a heterogeneous group consisting of physicians, pharmacists, molecular biologists, bioinformaticians, technicians and administrative officers.
Research Lines
• Subtelomeric rearrangements in patients with idiopathic mental retardation.
• Genetic and functional analysis of the SHOX and SHOX2 genes in human growth.
• Overgrowth syndromes. Clinical and molecular analysis.
• Genetic aspects of harmonic short stature.
• Genetic aspects of monogenic diabetes mellitus.
• Genetics of the GHrelin axis in infantil onset obesity.
• SNPs arrays in pharmacogenetics of HIV patients.
• CGHarrays and genomic rearrangements in patients with congenital malformations, intelectual disability and tumores.
• Molecular genetics of hypertrophic myocardiopathy.
• Functional analysis of CLCN1 mutations in congenital myotonia.
• Molecular study of endothelial dysfunction in diabetes and ageing.
• Molecular characterization of the 22q11.2 región by MLPA, microsatélites and FISH.
• Pharmacogenetics and pharcogenomics.
• Autosomal recessive osteogénesis imperfecta.
• Genomic tools for diagnosis: BAC, oligos and SNP arrays.
• Macrocephaly-capillary malformations and syndromes with macrocephaly.
• Next generation sequencing as a new tool in the diagnosis of genetic diseases.
• Dravet syndrome.
Objectives and Portfolio of services
The Institute has a specific vision to apply the results arising from our organisation and research in improving health care for patients with common and rare genetic diseases, making it one of the reference frameworks for the comprehensive care of genetic and rare diseases in the Madrid region.
The added value of the Institute of Medical and Molecular Genetics (INGEMM) lies in the participation of various working groups belonging to different areas of IdiPAZ, with the involvement of clinicians, teachers and investigators by establishing and enhancing collaboration, knowledge and infrastructure as well as translational research between the different groups involved. This multidisciplinary team will consist of physicians, biologists, chemists, pharmacists, technicians, geneticists, biotechnologists, etc., addressing new technologies of modern genetics in the study of these types of diseases.
The Institute of Medical and Molecular Genetics (INGEMM) offers a comprehensive portfolio of services that are detailed in the attached document.