Articles related to GENETIC DISORDERS

A new Endocrine Society guideline favors watchful waiting over immediate evaluation for many girls with early breast development, narrows brain MRI and genetic testing to select cases, and sets age limits for stopping GnRH agonist therapy.

Single-nucleus multi-omics sequencing across genetically diverse ASD mouse models revealed convergent molecular and cellular changes in early brain development, despite distinct underlying mutations.

The LRRK2 inhibitor BIIB122 failed to slow disease progression versus placebo in 648 early-stage idiopathic Parkinson’s patients in the Phase 2b LUMA trial, leading Biogen and Denali to discontinue joint development.

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.