Abstract
Rare Disease and Orphan Drugs Journal (RDODJ) is an international, peer-reviewed, open access journal. RDODJ will report on scientific advances in the genetics of rare diseases, the molecular basis of the pathologies, and translational research on diagnosis, prevention and treatment. In addition, RDODJ aims to provide a forum for scientific studies and discussion covering the important regulatory, socio-economic and human science issues related to rare diseases and orphan drugs.
Highlights
Rare diseases and orphan drugs represent an exciting and growing field at the conjunction of many disciplines of science, from basic chemistry, biology, and physiology to medicine, economics and social sciences
There is no single definition of rare diseases in different countries, but the consensus is that a disease is considered as “rare” when it affects less than 5 or 6 individuals per 10,000 persons
Thanks to the progress of genomic techniques, more and more rare diseases have been linked to a monogenic mutation, but important challenges have yet to be overcome for the elucidation of complex multigenic disorders and of genetic variants of unknown significance
Summary
Rare diseases and orphan drugs represent an exciting and growing field at the conjunction of many disciplines of science, from basic chemistry, biology, and physiology to medicine, economics and social sciences. The dynamic and urgent path of rare disease and orphan drug research.
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