What’s in a Name? Classifying Variants in Our Genetic Code

Better Health

The question: What does this report mean? You are treating a patient you think has cystic fibrosis. You order full genetic sequencing for the gene that causes cystic fibrosis (CFTR), and the report reads: two variants identified, one “pathogenic” and one “variant of uncertain significance.”  What does this mean? Does your patient have cystic fibrosis? […]

Cystic Fibrosis – Pathway to a Cure

Better Health

Did you know that although it can occur in any ethnic group, cystic fibrosis (CF) is the most common and severe inherited disease in Caucasians?