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The scientific symposium offers a day of exchange, debate, and meetings for all those involved in rare diseases, and it encourages the emergence of new research projects
Bringing together an international selection of leading scholars and representatives from patients’ organizations, this comprehensive collection explores the interaction between civil society groups and biomedical science, technology development, and research politics. This volume is an important reference for academics and researchers with an interest in the sociology of health and illness, science and technology studies, the sociology of knowledge or healthcare management and research, as well as medical researchers and those involved with health-related civil society organizations.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Clinical Application of Repurposed Drugs, Volume 207 in the Progress in Molecular Biology and Translational Science series, highlights new advances in the field, with this new volume presenting interesting chapters on Drug repurposing for viral disease, Drug repurposing for bacterial infections, Drug repurposing for parasitic protozoan diseases, Drug repurposing for fungal infections, Drug repurposing for treating anxiety and depression, Drug repurposing for personalized medicine, Drug repurposing for cancer, Drug Repurposing: A multi targeted approach to treat cardiac disease from existing classical drugs to modern drug discovery, and much more. Additional chapters cover Drug repurposing in...
Les défis posés par les maladies rares agitent de plus en plus les mondes politiques, médical et scientifique. Ces 30 dernières années, il est de plus en plus question de maladies rares, souvent assimilées aux maladies dites « orphelines ». Outre que leur nombre a explosé, ces maladies se sont aussi imposées au point de devenir un véritable problème de santé publique. Quelles sont donc les raisons de l’engouement presque planétaire pour ces maladies ignorées jusqu’il y a peu ? Dans cet ouvrage, le Dr Yves Gillerot analyse, étape après étape, le long chemin parcouru dans la compréhension et le traitement des maladies rares, avec les succès mais aussi les failles et les...
Les maladies rares se caractérisent par une errance diagnostique, parfois prolongée, qui plonge les familles dans un très grand désespoir. Lorsque le diagnostic est confirmé, de nombreuses incertitudes demeurent, notamment concernant le pronostic et l’évolution de la maladie ainsi que le risque de transmission génétique à la descendance. Cet ouvrage veut contribuer à l’amélioration du parcours de vie et de soin des personnes concernées depuis la recherche de diagnostic jusqu’à la prise en charge et l’accompagnement au quotidien. Soutenues par la Fondation Maladies rares, les recherches présentées visent ainsi à mieux comprendre les conséquences individuelles, familia...
This book provides readers with an overview of the frequent occurrence of asymmetric cell division. Employing a broad range of examples, it highlights how this mode of cell division constitutes the basis of multicellular organism development and how its misregulation can lead to cancer. To underline such developmental correlations, readers will for example gain insights into stem cell fate and tumor growth. In turn, subsequent chapters include descriptions of asymmetric cell division from unicellular organisms to humans in both physiological and pathological conditions. The book also illustrates the importance of this process for evolution and our need to understand the background mechanisms, offering a valuable guide not only for students in the field of developmental biology but also for experienced researchers from neighboring fields.