Articles related to Medical Genetics

Pediatric hearing loss care has shifted from physiologic detection and rehabilitation toward genetic diagnosis, prognostic counseling, and emerging targeted therapies. Advances in screening, cochlear implantation, and genetic testing have expanded etiologic evaluation, while therapeutic applications remain in early development.

The American Thoracic Society updated guidance for childhood interstitial lung disease in infants, emphasizing genetic testing, chest imaging, biopsy indications, and transplant referral. Recommendations formalize evaluation priorities for rare pediatric lung disorders.

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.

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.

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.