Articles related to GENETIC DISORDERS

Hematopoietic loss of the X chromosome in peripheral blood was associated with more than twofold the odds of failing to conceive naturally in a Japanese multicenter case-control study, with no corresponding association found in women undergoing ART.

The first participant was dosed in a Phase 3 trial of oral votoplam, as interim Phase 2 extension data suggested dose-dependent slowing of Huntington’s progression.

A 23-year-old woman with bilateral blurry vision, floaters, and a history of premature birth presented with exudative retinopathy and vascular features overlapping multiple inherited and acquired retinal disorders.

A 55-year-old man with bilateral hand arthritis, ruddy complexion, and elevated transferrin saturation presents a diagnostic reasoning challenge with implications for screening, surveillance, and family testing.

Extreme LDL-C in young patients with family history points toward familial hypercholesterolemia, a common genetic disorder that remains undiagnosed in 70% of cases.

A laboratory study suggests it may be possible to selectively silence an extra chromosome in Down syndrome cells, offering a glimpse into future genetic approaches rather than a near‑term treatment.