|
Composition
|
Name
|
Composition
|
Institution
|
|
Pablo Daniel Lapunzina Badía
|
Facultativo Especialista de Área en Genética
|
Hospital Universitario La Paz
|
|
Cinthia Amiñoso Carbonero
|
Técnico de Laboratorio
|
Hospital Universitario La Paz
|
|
Pedro Arias Lajara
|
Técnico de Laboratorio
|
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
|
|
Ángela del Pozo Mate
|
Técnico Informático
|
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
|
|
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
|
|
Pilar Martínez González
|
Bióloga
|
Hospital Universitario La Paz
|
|
Víctor Manuel Martínez González
|
Investigador Postdoctoral
|
Hospital Universitario La Paz
|
|
María Cruz Martínez Martínez
|
Técnico de Laboratorio
|
Hospital Universitario La Paz
|
|
José Carlos Moreno Navarro
|
Facultativo Especialista de Área en Genética
|
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
|
|
Víctor Luis Ruiz Pérez
|
Investigador Cientifico de OPIs
Jefe de laboratorio
|
IIB "Sols Morreale"
|
|
Carmen Sánchez Gómez
|
Técnico de Laboratorio
|
Hospital Universitario La Paz
|
|
Jesús Solera García
|
Facultativo Especialista de Área en Análisis Bioquímicos
|
Hospital Universitario La Paz
|
|
Mario Solís López
|
Bioinformático
|
Hospital Universitario La Paz
|
|
Elena Vallespín García
|
Jefa de Grupo de la Sección de Ofalmogenética Molecular
|
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 determinants of syndromic and non-syndromic proportional short stature
• Genetic detrerminants of disglycaemia: hypoglycaemia, diabetes
mellitus and hyperinsulinism.
• Genetic determinants of congenital hypopitutarism.
• SNPs arrays in pharmacogenetics, HIV patients and genetic associations.
• 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.
• Classification and Ontolgies of Diseases
• Primary Pulmonary hypertension
• Análisis genómico global en el Síndrome de invdup(15) [idic(15)
syndrome]
• Molecular characterization of inv dup del (8p) by Karyotype, SNP 2023 arrays and FISH
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.
|