Genetics

Toxic protein linked to muscular dystrophy and arhinia

Researchers at the National Institutes of Health and their colleagues have found that a toxic protein made by the body called DUX4 may be the cause of two very different rare genetic disorders. For patients who have facioscapulohumeral ...

Diseases, Conditions, Syndromes

What do you know about scleroderma?

Scleroderma, also known as systemic sclerosis, is a group of rare diseases that involve the hardening and tightening of the skin. It also may cause problems in the blood vessels, internal organs and digestive tract.

Neuroscience

Gaining insights into spastic paraplegia

Rare diseases, as the name indicates, only affect a small part of the population. However, for those affected they are particularly challenging, often especially because research into such rare diseases tends to be less of ...

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