In the 35 years since the discovery of the CFTR gene, there has been a broadening of understanding of the underlying genetic bases with marked advancement in available treatment options for people with cystic fibrosis. Important highlights include the realization of extensive CFTR variation and the recognition of a spectrum of less classical clinical presentations that now include a variety of CFTR-related disorders.
This symposium provide updates and status of ongoing efforts to support individuals with CF and CFTR-related disorders and their families, in order to achieve optimal treatment and care as well as for the provision of effective genetic counseling.
The CFTR2 database and web-based platform ([ Ссылка ]) is available to the general public, healthcare professionals and researchers, as it seeks to describe what is known about CFTR variants related directly to CF. A brief description of the platform and ongoing expansion of the variant database are described with the inclusion of contributions from over fifty countries and liability assessments of over 800 variants.
Given the rarity in the general population of many identified CFTR variants, multi-scale cell-model analysis systems for CFTR function/dysfunction testing have been developed to aid in both the assessment of residual CFTR protein and to facilitate the testing of restoration of functional activities with treatments. The outcomes of a major recent study of over 600 CFTR variants will be presented, enabling insight toward the consequent CFTR dysfunction and to enable early indication toward treatment decision-making.
Conditions and emerging entities related to CF reflect and emphasize the diversity of CFTR failure and dysfunction. The current clinical landscape and ongoing challenges for individuals with these conditions are presented, including the need for improvements in understanding their specific classifications and diagnoses, their progressive features and long-term outcomes, and the needs and timing for their interventions.
Finally, given the spectrum of CFTR variation and increasing potential toward management of CFTR dysfunction, there remains need for engagement of effective genetic counseling in the care of families, people with CF, and CFTR-related disorders. Recent efforts to align and achieve uniform approaches in genetic counseling will be presented.
The integration of gene variation and CFTR functional knowledge for alignment with the full range of phenotypic presentation of CF and CF-related disorders are critical for the optimal application of current CFTR-modulator therapies, and will also contribute to alternate therapeutic strategies including the anticipated genetic-based therapies.
Originally recorded September 27, 2024.
