A new article has been published in Rare Disease and Orphan Drugs Journal, providing an overview of the different methods for estimating the prevalence of rare diseases (RD). Most RD lack reliable epidemiological data, which poses challenges for therapeutic and management options. Furthermore, epide...

The importance of evidence-based screening programmes Recently, an article was published in The Lancet discussing the importance of evidence-based approaches in population screening, particularly when introducing genomic analysis. The authors draw on their experiences working in the genomics field i...

A new article in the Journal of Inborn Errors of Metabolism and Screening uses the national newborn screening (NBS) program in Vietnam as an example of the potential benefits and challenges of using economic evaluations to make decisions about the content of such programs. Compared to high-income co...

A new article published in the American Journal of Human Genetics aims to establish a framework for optimising the timing of screening for treatable genetic disorders. The authors identify four points at which critical decisions might be made: prenatal, the newborn period, childhood, and adulthood. ...

This month, the National Organization for Rare Disorders (NORD) is joining the larger United States’ rare disease community in celebrating the 40th anniversary of the Orphan Drug Act (ODA). Signed into law in 1983, the ODA marked one of the first major victories for rare disease advocates. It ...