Speakers in this session will describe the characterization of genetic variants at the CFTR locus & discuss the impact of genetic variants in other genes (genetic modifiers) on CF. We will discuss ways in which CFTR & genetic modifier information can be incorporated into clinical management at the time of CF diagnosis & through childhood & adulthood.
Describe how to best annotate whether a mutation in CFTR causes CF or is a neutral variant.
Identify how & which genes other than CFTR can affect CF & its complications.
Discuss what genetic information about CFTR & other genes can add to the clinical care for people with CF at the time of CF diagnosis & throughout childhood & adulthood.
Johns Hopkins Univ. School of Med.