Research projects
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Artificial intelligence and machine learning in human diseases
19th national competition for scientific and technical research
Rare diseases
Senior Researcher : Pablo Lapunzina Badía
Research Centre or Institution : INGEMM-Hospital Universitario La Paz-CIBERER. Madrid
Abstract
The objectives of this work are to provide primary information on the signs, symptoms and findings of each of the more than 20,000 human diseases and the adverse effects of more than 12,000 drugs and pharmaceutical compounds for human treatments; to integrate them into a database of free access, to prioritize them by age of appearance (in 7 levels) and by frequency (in 4 levels), in order to: 1) provide the health systems of any part of the world with quality primary information on all diseases human, its signs, symptoms and findings (biochemical, radiological, others) so that they can be used as diagnostic help in any medical act and 2) offer intelligent data systems of big data (through artificial intelligence and machine learning) tools for processing clinical information in a standardized format that is capable of being recognized by computerized systems and that can be useful in the analysis of high-performance exomic and genomic studies.
The project is divided into 3 well-differentiated methodological phases. The first part consists of the algorithms and search engines aimed at capturing and preparing the information that should be reviewed and curated. The second phase is the incorporation of all the information obtained in a web tool where it can be curated by the experts. The third phase is the design and implementation of a diagnostic aid tool in web format.
Scientific Production |
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Magazine Articles | 1 |
Communications at national conferences | 1 |
Communications at international conferences | 1 |
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30
Jan
2020
International Symposium Understanding and reprogramming developmental visual disorders: from anophthalmia to cortical impairments Madrid, Thursday and Friday, 30 and 31 January 2020, 9:30 hours
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8
Apr
2024
Panel Discussion Mundo de las prótesis, los nuevos materiales, sus complicaciones y su futuro Madrid , Lunes, 8 de abril 2024. 17.00 horas
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23
Apr
2024
Session Situación actual de las Enfermedades Raras en España Madrid, Martes, 23 de abril de 2024, 10:00 horas
- Phenotyping of animal models of rare diseases with visual disability 2020 Senior Researcher : Lluís Montoliu José Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid
- The neuronal glycine transporter GlyT2 in herplexia: a glycinergic pathology of development 2020 Senior Researcher : Beatriz López Corcuera Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM
- Serum markers in patients with congenital melanocytic nevi: clinicopathological and genetic correlation 2020 Senior Researcher : Pedro Redondo Bellón Research Centre or Institution : Clínica Universidad de Navarra. Pamplona
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