Estamos buscando tratamientos potenciales para las personas con FQ que tienen mutaciones raras y sin sentido. Es posible que no aprovechen de los moduladores, que corrigen la proteína reguladora de la conductancia transmembrana de la fibrosis quística (CFTR, por sus siglas en inglés) que funciona mal.
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I was recently reminded of what my life used to be like before Trikafta® — and I immediately felt guilty for forgetting. But maybe it’s OK to let go of the past and embrace a future of hope.
Newborn screening (NBS) is a program run by each state to identify babies born with certain health conditions, including cystic fibrosis. Although a sweat test should ultimately be done to rule out or confirm a CF diagnosis, NBS can help you and your health care providers take immediate steps to keep your child as healthy as possible.
Dr. Dorothy Andersen first wrote about cystic fibrosis in 1938, and our understanding of the disease has significantly evolved since. There are still many misconceptions about what CF looks like today, from the person who lives with the disease to how it manifests.
Theratyping matches therapies, or medications, to specific types of mutations. The primary goal of theratyping is to identify which mutations respond to certain CFTR modulators, thereby helping people with rare CFTR mutations gain access to already approved modulators quickly and safely.