cystic fibrosis
ACMG Updates Cystic Fibrosis Carrier Screening Guidelines
The updated list grew from 23 variants in the CFTR gene to 100, all of which have been established as pathogenic or likely pathogenic.
Cystic Fibrosis Sinus Infections Involve Microbes With Shifting Evolution Patterns
While early-stage Pseudomonas aeruginosa sinus infections were marked by selection for aggregating forms of the bug, genetic drift and genome degradation arose later in infection.
At NSGC, Genetic Counselors Address Race-Based Medicine, Ways to Change
Medical racism and race-based medicine persist, though plenary speakers at this year's NSGC meeting said genetic counselors may be able to help address disparities.
Mycobacterium Evolution Study Suggests Early Cystic Fibrosis Infection Treatment
Mycobacterium abscessus adaptations in the environment and in patients' lungs point to early infection treatment as a measure to help prevent new pathogen emergence.
At an AMP virtual meeting workshop, a Mayo Clinic lab director offered advice on what diseases to include, how to handle VUSs, and other considerations for ECS.