The development and application of a high-throughput assay to measure JAG1 membrane expression significantly improves the classification of JAG1 gene variants, reducing diagnostic uncertainty for Alagille syndrome and enhancing molecular diagnosis, according to...

The initial height increase in the first year of recombinant human growth hormone (rhGH) treatment can predict long-term growth outcomes in children with growth hormone deficiency (GHD), according to a study. Although rhGH...

A newly developed machine-learning model using healthcare claims data has demonstrated high effectiveness in identifying patients with homozygous familial hypercholesterolemia (HoFH), according to a study. Utilizing claims data from the Komodo Healthcare Map...

Cholic acid supplementation significantly increases plasma cholesterol levels in individuals with Smith-Lemli-Opitz Syndrome (SLOS) and is well tolerated by patients, according to a study. The study shows that cholic acid can be a...

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...

Significant diagnostic delays are often experienced by patients with primary hyperoxalurias (PH) with a discrepancy in diagnostic timelines between children and adults, according to a study. The observational and retrospective study analyzed data...