Determinants for research on rare diseases

Excerpt

The term rare diseases (RD) includes a wide heterogeneous group of disorders that can involve any human organ or system. In the last decade RD have been incorporated into the agenda of health-care providers and public-health authorities; however, many problems still remain to be solved and even addressed properly. Some of these issues refer to patient’ care and management such as early diagnosis, quality of the information, access to treatment and rehabilitation, and appropriate multidisciplinary healthcare. Research is also necessary as it is the way to learn about mechanisms of diseases, improve diagnosis techniques and develop new therapeutic approaches. Research in psychological and social aspects of RD is also needed. Determinants for biomedical research in RD and orphan medicines affect basic science, clinical investigation, translational approaches, and transfer activities at the pharmaceutical and biotech companies, making the patient the focus of the triangle made up of the academy, hospitals and industry. …