Medical research

Genetic disease linked to protein build-up

Mutations of the gene Lmna previously thought to be directly responsible for a group of laminopathies—serious developmental conditions including premature aging and a form of muscular dystrophy—in fact cause them by allowing ...

Pediatrics

New blood protein markers help track premature ageing disease

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare fatal genetic disorder which causes sufferers to age prematurely. In a new study in the journal Pediatric Research, which is published by Springer Nature, scientists ...

Genetics

New study aims to define the progeria phenome

Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associated with normal aging. Due to the large variation in clinical presentation the diseases pose ...

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