Information on Earth's biodiversity is increasingly collected using DNA-, image- and audio-based sampling. At the same time, new statistical analysis methods are being developed to make more out of ...

In recent years, Roche has made a habit of oscillating between first and second place on rare disease patient groups’ annual ...

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

Gene therapies for rare diseases are frequently developed then discarded by drug companies because they can’t afford to ...

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

There’s one group of people who don’t need convincing that dementia is not an old person’s disease – and that’s the parents ...

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

The commercial success of existing lipid-lowering medications highlights the enormous market potential for effective ...

A study in China covering 42,703 families affected by rare diseases across 32 provincial regions of China has established a new diagnosis framework for rare diseases. It offers new hope to millions of ...

The first few months of 2025 brought hope to the rare disease community. Food and Drug Administration leadership promised transparency and increased use of the accelerated approval pathway to deliver ...

Catherine Illingworth, 39, knew something was wrong the moment her son's neurologist walked into the room. Illingworth requested the referral from her son's pediatrician based on instinct. George took ...

Please provide your email address to receive an email when new articles are posted on . Annette Bakker, PhD, pursues novel research on rare diseases by repositioning shelved assets into viable ...