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Call for papers: Rare Disease in the U.S.

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Interest in rare diseases has increased in medicine, science and society, promoting the active participation of patients themselves and the associations that represent them. The field of rare diseases is one of those that best represent the paradigm of patient-centered health. Biomedical research is capable of generating diagnostic tools, defining molecular targets and generating new treatments determined by scientific knowledge and adaptation to their clinical translation. Rare diseases are a public health problem, although each of these conditions is very rare. This requires an international response to encourage collaboration in the study and research of large groups of patients with the same disease who live in different countries and geographical areas. The attitude of bringing rare diseases to the international level must lead to an improvement in research and outcomes, and the development of clinical trials that improve the quality of life and the future of patients. In recent years there have been interesting international initiatives such as the International Rare Diseases Research Consortium (IRDiRC) aimed at improving the diagnosis and treatment of rare diseases. More recently, transnational networking is being promoted to foster health care and clinical research among countries, such as the European References Networks (ERNs) promoted within the framework of the European Union. 

International and network work is therefore necessary and essential for the promotion of research and health care of rare diseases. Along with international actions, Orphanet provides information on a significant number of European countries and the geographic area of influence, and others such as Argentina, Australia, Canada and Japan; however, we know little about the structure and actions in rare diseases in specific countries. And yet, what is done in relation to rare diseases and how it is done is the first thing that can be of interest to anyone affected by one of these disorders.

The Call for Papers is aimed at authors who reflect in their articles the current status of and their vision on various aspects of rare diseases in United States. In this way, the National Institutes of Health have promoted several actions such as Rare Diseases Clinical Research Network (RDCRN) program and the Undiagnosed Diseases Network. RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing, and currently there the program is supporting 22 RDCRN Consortia in different groups of rare disorders.

The articles should address aspects related to the diagnosis of patients, research into disease mechanisms and therapies, models of clinical translation and scientific collaboration, the model of reference centers, how undiagnosed diseases and patients are managed, or the impact of diagnosis and therapies in the welfare of patients. In a global sense, it is interesting to know epidemiological and public health aspects and those related to the health economics of rare diseases.

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