New research has identified 20 genetic changes in a gene known to cause Marfan syndrome that could help to explain unsolved ...

In the third in his special series of articles exploring the enduring legacy of Tutankhamun, Zahi Hawass searches for the boy king’s relatives among mummies thought to belong to the royal family ...

Researchers working on an incurable blood cancer can now use a new lab model that could make testing potential new treatments ...

A successful claim for PIP or ADP is now worth between £29.20 and £187.45 each week in additional financial support and as ...

OMRF researchers uncover a genetic link between lymphatic valve formation and Crohn's disease, paving the way for future treatments.

Meet Immie, an ‘amazing’ two-year-old who is the ‘sassiest, funniest and happiest little girl.’ But heartbreakingly, Immie ...

Nicolina was diagnosed with Marfan's Syndrome and a rare genetic disorder, leading to persistent complications including a ...

MS is a genetic disorder first identified in 1896 by the French pediatrician Antoine Bernard Marfan. It shows significant phenotypic variability, with mild-to-severe and potentially fatal cases. 2 The ...

Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects ...

Marfan syndrome (MFS) is a systemic heritable connective tissue disorder caused by pathogenic variants in the FBN1 gene. Previous studies have documented the clinical utility of FBN1 mutation ...

Hutchinson-Gilford Progeria Syndrome (HGPS) is a fatal, accelerated-aging disease caused by a mutation in the nuclear envelope protein Lamin A. The resulting mutant protein, progerin, accumulates on ...

European wildcat (F. silvestris). (Credit: Alena Houšková, Wikimedia) The underlying genetics are relatively straightforward despite the pretty wild number of possible phenotypes.