Rare Diseases

Health & Medicine

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Research

Cutting the diagnosis journey for children born with rare genetic diseases

Families can wait years for a diagnosis of a rare genetic disorder, but a new test can provide answers in days for a better understanding of the condition and potentially earlier treatment

Health & Medicine

Living with a rare genetic disorder

This month is Ehlers Danlos Awareness Month – a group of rare hereditary syndromes that, if diagnosed early, can be managed to slow their progression

Health & Medicine

Cell research on rare disease finds new link to inflammation

Discovery of an inflammatory driver in a rare syndrome may have implications for more common diseases like Parkinson’s and viral infections