At the Center for Genomic Medicine, we maintain a favorable atmosphere and environment for cooperative and interdisciplinary research of excellence and translation, to achieve a regional and global impact on the generation of knowledge and health care. We seek to develop new methods and technologies to transform biomedical research, as well as define and promote quality standards in the field of health research.
Research groups - I3PT
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Group A5G3 - Genetically based neurodevelopmental disorders: Aimed at deepening the etiopathogenic basis, the clinical and management problems, prognosis, treatment and genetic counseling of these pathologies. We are leaders in genetic syndromes such as Angelman, Prader-Willi, fragile X and alterations of sex chromosomes, and we participate in clinical trials that improve the quality of life of patients. More information on the I3PT website here.
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Transversal area of Ohmic Sciences: With the aim of developing new treatments and diagnostics, research and innovation, this transversal group within the I3PT seeks to incorporate the omic sciences to promote personalized, preventive, predictive and participatory medicine. More information on the I3PT website here.
Active lines of research
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Innovation in the development of omics and big data technologies for the search for genomic variants associated with neurodevelopmental disorders.
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Analysis of genetic factors involved in the susceptibility of neuropsychiatric disorders.
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Development of new therapies and precision medicine for the treatment of neurodevelopmental disorders, based on individual genetic information.
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Personalization of clinical management in patients with neurodevelopmental disorders of genetic basis, both in pediatric age and in adult life, in order to ensure an adequate transition.
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Fragile X syndrome. Epilepsy study in patients diagnosed with this syndrome.
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Prenatal: Collaboration with Dr. Borrell (Hospital Clínic de Barcelona) to study prenatal exome in patients with multiple malformations or those affecting more than two different systems or with IUGR thanks to a FIS project.
Agreements and Collaborations
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IMPaCT-GENOMICS: The Precision Medicine Infrastructure program associated with Science and Technology in Genomic Medicine (IMPaCT-GENòMICA), funded by ISCIII, provides genomic support to the Predictive Medicine program and uses technologies that are currently in the framework of research, through high performance sequencing centers, with the intention of helping in the diagnosis of people with undiagnosed diseases. It is a project with the participation of multiple hospitals throughout Spain.
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SpadaHC: This project aims to create a Spanish database of genetic variants in hereditary cancer (SpadaHC) with the aim of homogenizing the classification of identified variants, recognizing founder/recurrent variants, evaluating cancer risk associations with specific germline variants and identify key genetic domains. SpadaHC will allow the collection of purified data, useful for participating in international consortia of large cohorts that encompass the entire territory. The information generated will be applicable to the risk assessment, diagnosis and prevention of cancer patients and their relatives. It is a project with the participation of multiple hospitals throughout Spain.
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UNIQUE: The UNIQUES Network was born with the aim of creating an ecosystem of alliances to improve the response of the SNS to patients with complex minority diseases throughout the entire care process (from start to finish).
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Annealing: "Genius-CLL: A harmonized diagnostic tool for Chronic Lymphocytic Leukemia (CLL) patient management (Genius-CLL)". The Genius-CLL project aims to improve and standardize the diagnosis of CLL patients using a unified genetic and epigenetic analysis channel (i.e. GEUS-CLL technology). GEUS-CLL will provide, for the first time in a single test, a wealth of reliable molecular information with a direct impact on clinical decisions related to the management of patients with CLL. Its validation in the clinical setting will provide faster and more accurate access to the right personalized diagnosis and therapy for each patient.
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FAST: FAST España is a foundation created by families with children affected by Angelman Syndrome, with the aim of raising awareness in the Spanish community and working together to promote the development of treatments that improve the quality of life of these patients. Collaboration between FAST-Espanya, Hospital Puerta del Hierro and Corporación Sanitària Parc Tauli to develop the Natural History study of Angelman Syndrome.
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AUTS2_3D: Department of Evolutionary Biology, Ecology and Environmental Sciences, Faculty of Biology, UB: Investigate the facial phenotype (specific features of the face) of patients diagnosed with AUTS2 syndrome, in order to better understand the biological patterns shared by people with the same diagnosis. In addition, clinical and psychopathological characteristics will be collected through interview and standardized psychometric tests, as well as dermatoglyphic patterns that have proven to be non-specific markers of neurodevelopmental alterations. To analyze the facial phenotype, 3D facial models will be reconstructed using photogrammetry techniques, following previously validated protocols, from 10 photographs taken of each patient with a set of digital cameras that are shot simultaneously by remote control.