Working with agency partner DCX Growth Accelerator, GeneDX takes direct aim at the issue of underdiagnosis of pediatric rare diseases.

The FDA’s proposed Rare Disease Evidence Principles review process is a starting point for getting rare disease therapies ...

Baylor College of Medicine has received new funding from the National Institutes of Health for two consortia in the Rare ...

David Mitchell, PharmD, MBA, UC Davis, shares how collaboration between health systems and manufacturers is transforming patient access and outcomes for rare disease treatments.

The global pharmaceutical industry is make huge investments in treatments for rare diseases, which once drew little interest from major drugmakers. A look at some key statistics on rare diseases: ...

Lorna Rothery spoke with Victoria Hedley, co-lead of the Rare Disease Research UK Hub, about initiatives aimed at advancing ...

Artificial Intelligence (AI) is significantly impacting the healthcare sector, particularly in diagnosing rare diseases. One ...

Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes Ambry Genetics’ Patient for Life program is supported by a dedicated team of scientists who ...

Families of kids with PDCD are urging the FDA to approve DCA, a treatment that could extend their children's lives despite ...

In the same way that policy can ignite biopharmaceutical innovation, it can also have a chilling effect. One of the most classic examples of this hot and cold effect of lawmaking is in the area of ...