UB Chair on Rare Diseases
This chair has been formed by the UB and pharmaceutical company Pfizer to carry out activities focused on promoting and disseminating knowledge and research in the field of diseases
Scientific director
Presentation
The main aims are:
- To hold courses and seminars to train, update knowledge and innovate in the area of rare diseases.
- To organize scientific meetings to promote a multidisciplinary approach.
- To generate grants for conferences, support scientific output and create the UB Pfizer Chair Award to improve bachelor’s degree final projects on rare diseases at the UB Faculty of Biology.
- To organize talks for society in general, in collaboration with patient organizations.
News
The UB Rare Diseases Chair organizes the summer course Rare Diseases: From diagnosis to therapy
UB Rare Diseases Chair collaborates in the production of the video “29 de febrer”
The UB Rare Diseases Chair organizes and sponsors the workshop “We are all mutants” at the International Duchenne and Becker Congress
Team
PhD holder in Neurobiology.
She is an adjunct lecturer at the Faculty of Biology’s Department of Cell Biology, Physiology and Immunology and lecturer on the UB master’s degree in Neurosciences.
She is scientific director of the Duchenne Parent Project Spain and president of the Scientific Directors Committee of the World Duchenne Organization.
In addition, she is a member of the management committee of action CA17103 of the European Cooperation in Science and Technology (COST) network, the external scientific committee of the Hospital Sant Joan de Déu, and the European Organisation for Rare Diseases (EURORDIS).
She is also scientific advisor of the association ImpulsaT on caring for infants with merosin deficiency.
He is Academic Vice-Dean of the UB Faculty of Biology.
He is a senior lecturer in the Faculty of Biology’s Department of Cell Biology, Physiology and Immunology and a lecturer on the UB master’s degree in Neurosciences.
He has written over 50 scientific articles indexed in PubMed.
Regular collaborator with the Hospital de la Santa Creu i Sant Pau.
She is member of the consolidated research group Molecular Basis of Pathology, and responsible for the subject Rational Design of Bioactive Molecules and Macromolecular Structure.
She has published over 40 scientific articles.
He is a senior lecturer in the UB’s Department of Genetics, Microbiology and Statistics.
He leads the research group on Genomics of Primary Immunodeficiencies, which analyses the molecular mechanisms that cause rare diseases.
His research is focused on alternative models of the inheritance of germline genetic variants, such as somatic mutations, digenic inheritance or the existence of severe variants or modifier genes.
She researches neurodevelopmental disorders, particularly those due to MAGEL2 and TRAF7 mutations and the identification of new associated genes. She is also interested in the genetic factors involved in obsessive compulsive disorder, bone phenotypes, stroke recovery and Sézary syndrome.
He is a full university professor of Biochemistry and Molecular Biology.
He coordinates node 2 (Catalonia) of the Spanish Ion Channel Initiative (SICI).
He is a full university professor of Biochemistry and Molecular Biology.
He is principal investigator of the research group Molecular Metabolism and Disease, of the UB Department of Biochemistry and Molecular Biomedicine, attached to the Institute of Biomedicine of the University of Barcelona (IBUB), the Sant Joan de Déu Research Institute (IRSJD) and the Spanish Biomedical Research Centre in Physiopathology of Obesity and Nutrition (CIBEROBN).
He is an ICREA Acadèmia researcher and scientific director of IBUB.
She is a Ramón y Cajal researcher in the UB’s Department of Genetics, Microbiology and Statistics.
Her research is focused on the study of molecular and genetic bases of neurodevelopmental disorders. She currently studying mechanisms that lead to Williams-Beuren syndrome and 7q11.23 microduplication syndrome, two rare diseases, one caused by a deletion and the other by a duplication. To achieve this, neural models are generated and analysed in vitro derived from induced pluripotent stem cells (iPSC).
In addition, her interests include psychiatric disorders such as autism.
She directs a UB research group and the Center for Biomedical Network Research on Rare Diseases (CIBERER), which studies the genetic bases and the development of treatment for inherited blindness using genetically modified cells and organisms.
She is co-founder of the company DBGen, dedicated to the genetic diagnosis of genetic eye disease.
She is also a member of the UB Bioethics Committee.
She is principal investigator of the group Human Molecular Genetics, attached to the Institute of Biomedicine of the University of Barcelona de la UB (IBUB),the Sant Joan de Déu Research Institute (IRSJD) and the Center for Biomedical Network Research on Rare Diseases (CIBERER).
She researches osteoporosis and rare bone diseases, as well as ultra-rare developmental disorders that involve congenital malformations and mental retardation.
He is a full university professor of Biochemistry and Molecular Biology at the UB.
He directs the Institute of Biomedicine of the University of Barcelona (IBUB) and the research group Molecular Pharmacology and Experimental Therapeutics (MPET), which is attached to IBUB and the oncology programmes at the Center for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD) and the Sant Joan de Déu Research Institute (IRSJD), in which he studies the metabolism of nucleotides in the area of rare diseases and oncogenesis.
He is principal researcher at the UB Institute of Neurosciences.
She is a senior lecturer in the UB’s Department of Cell Biology, Physiology and Immunology.
She is principal investigator at the Institute of Biomedicine of the University of Barcelona (IBUB).
She is an associate professor in the Department of Evolutionary Biology, Ecology and Environmental Sciences (subsection of Biological Anthropology) of the UB. She is a specialist researcher in anatomy, comparative anatomy, geometric morphometry and morphology quantification techniques, focusing on understanding the functionality of the locomotor system and intra and interspecies variability. His research contributes to the study of rare diseases by exploring how anatomical variations can influence the presentation and evolution of these diseases.
She is full professor in the Department of Evolutionary Biology, Ecology and Environmental Sciences (subsection of Biological Anthropology) of the UB. He is currently the Head of Studies of the Biomedical Sciences degree (Biology campus) at the UB, and has previously held several academic management positions in the Faculty of Biology. He belongs to the Phenomics research group and is a member of the consolidated research group Genes, environment and phenotypes in complex diseases. His line of research includes human population genetics and its application to biomedical aspects, human biodemography and human ecology.
She is an associate professor in the Department of Evolutionary Biology, Ecology and Environmental Sciences (subsection of Biological Anthropology) of the UB. Principal researcher of the Phenomics group, she is also a member of the consolidated research group Genes, environment and phenotypes in complex diseases. His line of research seeks to develop diagnostic and prognostic tools for rare diseases and neurodevelopmental disorders, combining phenotypic and genetic biomarkers with artificial intelligence.
He is an associate professor in the department of Genetics, Microbiology and Statistics of the UB.
He leads the bacterial infections and antimicrobial therapies (BIAT) research group at the Institute of Bioengineering of Catalonia (IBEC) that investigates the development of new methodologies for the diagnosis and treatment of bacterial infections, as well as understanding the molecular bases of their virulence and pathogenicity and its growth in the form of biofilms.
The group studies chronic microbial infections in Cystic Fibrosis.
She is an associate professor in the Department of Biochemistry and Molecular Biomedicine of the UB. She is a researcher at the Center for Biomedical Research in the Rare Disease Network (CIBERER) and attached to the Biomedical Research Institute of Barcelona. The laboratory where he works is specialized in heteromeric transporters of amino acids and associated aminoacidurias. His specialty is the studies of the defects found in patients at the molecular level, using techniques such as crystallography or electron cryomicroscopy of particles. As an independent researcher, she directs a project on the murine model of urocanic aciduria.
