Cystic fibrosis year in review 2021

Abstract

People with cystic fibrosis (CF) have an amazing outlook with the treatment availability of highly effective modulators. Unfortunately, not all PwCF are eligible for modulators leading to continued pulmonary exacerbations and advanced lung disease. Additionally, optimizing diagnosis and evaluation for CF in the newborn period continues to be an area of focus for research. This review article will work to cover articles published in 2021 with high clinical relevance related to the above topics, however due to the extensive body of research published, this review will not be comprehensive.

Medicare‐funded reproductive genetic carrier screening in Australia has arrived: are we ready?

“…As a result, newborn screening for spinal muscular atrophy is now being introduced across Australia. [17][18][19] Notably, no current curative treatment is available for any of the three conditions, all of which affect quality of life and/or life expectancy.…”

“…New targeted therapies are now available for cystic fibrosis and spinal muscular atrophy, which if instituted early in life may have dramatic impact on health outcomes. As a result, newborn screening for spinal muscular atrophy is now being introduced across Australia 17‐19 . Notably, no current curative treatment is available for any of the three conditions, all of which affect quality of life and/or life expectancy.…”