Romano-Ward syndrome, the most common congenital long QT disorder, often causes exertion- or stimulus-triggered syncope and ...

Gaucher disease is a rare inherited disorder in which fatty substances accumulate inside certain cells, gradually damaging organs such as the spleen, liver and bones. The condition occurs due to a ...

Gaucher is a rare genetic condition that causes fatty substance build up in the tissues of spleen, liver and bones and ultimately causes damage and dy.

Preconception carrier screening helps couples identify hidden genetic risks and consider safer pregnancy planning options.

Early clinical data indicates the treatment leads to dose-dependent increases in functional AAT protein, which is altered in the condition.

Genomic analysis of three Neanderthals shows unusually high modern human DNA on the X chromosome offering clues about ...

A mother of two experienced falls, vision problems and memory loss due to a rare condition, MTHFR-related autosomal recessive ...

YolTech Therapeutics, a late clinical-stage biotechnology company developing in vivo gene-editing therapies, today announced that the U.S. Food and Drug Administration (FDA) has approved the ...

Sjögren-Larsson syndrome (SLS) constitutes a rare genetic disorder manifesting as a complex neurocutaneous condition characterised by congenital ichthyosis, progressive neurological impairment and ...

The ATLAS Research Group at the University of Seville (HUM-694) is collaborating in an archaeogenomic study carried out by the UK universities of ...

Researchers from the University of Seville are participating in an international study that sheds new light on the genetic diversity of Andalusian ...