Drugs that target the underlying defect in the cystic fibrosis transmembrane conductance regulator (
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5 min read
Close to 40,000 people in the U.S. have cystic fibrosis, a rare genetic disease. The majority of people with CF are diagnosed by age 2 thanks to newborn screening tests. If you have CF or are considering testing for it, knowing about the role of genetics in CF can help you make decisions about your health care.
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.
7 min read
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.
3 min read