Hartmut Grasemann et al. N Engl J Med 2023 11 (18) 1693-1707
From the paper: "Care for patients with cystic fibrosis has undergone transformative changes over the past decade and serves as an example of how an understanding of the functional consequences of a genetic disease can lead to improved outcomes in affected persons. Substantial progress had been made through the implementation of therapies addressing key downstream manifestations of the disease such as mucus accumulation in the airways and persistent airway infections. In addition, the introduction of small-molecule drugs that address the underlying molecular defects — cystic fibrosis transmembrane conductance regulator (CFTR) modulators — has resulted in unprecedented improvements in the health of many persons with cystic fibrosis."
The past 10 years of cystic fibrosis treatment: the road to cure.
Claudio Castaños et al. Lancet Respir Med 2023 10 (10) 864-865
From the paper: " Cystic fibrosis is a genetic disease associated with high rates of premature death. There have been many advances in clinical care for cystic fibrosis during the past 50 years, such as the widespread implementation of newborn screening for early diagnosis, enhanced mucociliary clearance techniques, and improvements in nutrition (including adjusted pancreatic enzyme replacement therapy and a high-energy, high-fat diet). However, the life expectancy of patients with cystic fibrosis is still substantially shorter than that of the general population."
Screening during IVF for inherited diseases can greatly reduce costs of care
L Flynn, MedicalXpress, July 2023
For prospective parents who are carriers of many inherited diseases, using in vitro fertilization along with genetic testing would significantly lower health care expenditures, according to a new study. Preimplantation genetic diagnostic testing during IVF, or PGD-IVF, is now being used to screen for single-gene defect conditions such as cystic fibrosis, sickle cell disease and Tay-Sachs disease, along with nearly 400 others.
Disease screening for newborns varies by state. For some, that means diagnoses come too late.
A Bendix, NBC News, June 16, 2023
Many parents have experienced the horror of learning that their children have rare diseases for which earlier intervention might have made a difference, say screening babies for more conditions could save lives. The Department of Health and Human Services recommends that newborns get screened for 37 disorders, including cystic fibrosis and Pompe disease, as well as 26 other related disorders. Krabbe disease isn’t on the list.