Why have so many drugs failed in tackling this disease, and is there a light at the end of the tunnel? This infographic, from Fluidic Analytics, investigates. Over the recent decades, science has ...

Inherited metabolic disorders (IMDs) are a vast and complex group of rare genetic diseases presenting throughout a patient’s life span. Ambient ionization mass spectrometry techniques that enable ...

Rare diseases affect around 110,000 people in Northern Ireland. At Ulster University, we work with national and international charities, including the Northern Ireland Rare Disease Partnership, with ...

With over 40% of all medicines in the pipeline aimed at rare diseases, the future looks positive for increasing the number of treatments available. However, as Ben Hargreaves discovers ...

The programme has played a pivotal role in establishing a nationwide network for the precision diagnosis and treatment of rare paediatric diseases. As the main children’s hospital in South Korea ...

Eponyms — diseases named after a person — can cause serious confusion. That is particularly true in one rare disease ...

In a new study, a team of researchers, including Anneliene Jonker, has published, in Nature Reviews Drug Discovery, the first ...

While PH Awareness Month is a great opportunity to connect and educate, rare disease advocacy is columnist Jen Cueva's passion all year.

The University of Minnesota’s annual Rare Disease Day seminar this year, held at the end of February, explained how patients with rare diseases can utilize telehealth services nationally and ...

Nager syndrome, or NS, is a rare genetic disease that affects the development of the face and limbs, usually causing anomalies in the bone structures of the jaws, cheeks, and hands. With a ...

Scientists from the University of Nottingham have developed a new method of genetic analysis, which extracts more precise ...

FSU’s Institute for Pediatric Rare Diseases – still in its initial stages as the state’s first-of-its-kind center – received ...