A recent poster presented at the 2025 American College of Cardiology's Annual Scientific Session evaluated surgical outcomes in patients with homozygous familial hypercholesterolemia (HoFH) undergoing aortic valve replacement (AVR). Researchers analyzed data from 134...

Somapacitan, a once-weekly growth hormone injection, significantly improves treatment convenience for adults with growth hormone deficiency (GHD) compared to daily GH injections, while maintaining similar efficacy in key health markers, according to a...

Whole blood can serve as a reliable alternative to plasma for diagnosing Smith-Lemli-Opitz syndrome (SLOS) by measuring 7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) levels, according to a study. Using gas chromatography-mass spectrometry (GC-MS), the...

While sponsored genetic testing panels improve access to molecular diagnosis for inherited retinal diseases (IRD), significant challenges remain, including varying positivity rates between providers, discrepancies in variant classification (especially for variants of unknown...