Articles related to GENETIC DISORDERS

A patient with obstructive jaundice and persistent suspicion for periampullary malignancy was ultimately found to have multifocal grade 1 pancreatic neuroendocrine tumors after surgical resection. The case highlights the diagnostic limitations of preoperative tissue sampling in selected periampullary lesions.

A genome-wide analysis of more than 2.5 million adults identified 26 genetic regions associated with fibromyalgia risk. The findings support a neurologic biological basis for the condition, though they do not establish causality or create a diagnostic test.

University of Oklahoma researchers identified a photoreceptor lysosomal recycling pathway regulated by PIKfyve. Mouse-model disruption produced photoreceptor degeneration and RPE changes resembling macular degeneration biology.

Analysis of genetic testing data from nearly 180,000 individuals with autism suggests that Phelan-McDermid syndrome may affect approximately 1 in 7,300 people. The findings indicate the condition may be substantially more common than previously estimated and highlight ongoing diagnostic gaps.

The FDA expanded approval of the CRISPR-based gene therapy Casgevy to include patients as young as 2 years with sickle cell disease or transfusion-dependent beta thalassemia. The decision was supported by pediatric phase 3 data demonstrating sustained reductions in disease burden.

Genetic analyses of nearly 80,000 infants identified variants associated with toddler activity levels and other early behavioral traits. Several of these genetic signals overlapped with those previously linked to ADHD and autism, although the findings do not establish causality.