Spanish Interpretation available for this session. Please click on the Web Links tab at bottom of screen to link out to live interpretation.
Plenary
P1 - Hope for All: Addressing the Needs of Those with Untreated CF Mutations
Thursday, November 3, 2022
2:00 PM – 3:15 PM ET
Location: Terrace Ballroom
As most people with CF who have two nonsense or other rare mutations cannot benefit from CFTR modulators, there is a critical need to develop treatments that target the underlying cause of their disease. Plenary 1 will provide an overview of less common mutations, such as nonsense mutations and splice variants, and the different scientific approaches being undertaken to develop new treatments. Steven M. Rowe, MD, Chief Scientific Officer at the Cystic Fibrosis Foundation, will focus on nonsense mutations and the innovative new research underway to help enable the production of a functioning CFTR protein. Michelle Hastings, PhD, Rosalind Franklin School of Medicine and Science, will highlight research into the development of a novel approach using antisense oligonucleotides (ASOs) for individuals with splice mutations. Rebecca Darrah, PhD, Case Western Reserve University, a geneticist as well as a genetic counselor, will delve into other rare mutations and the latest research into mRNA therapy which may prove to be a viable new treatment for people with these and other mutations.
Educational Objectives:
Describe rare CFTR variants and how these mutations are more challenging to treat with current CFTR modulators.
Demonstrate how progress in overcoming nonsense mutations through mechanisms that induce translational readthrough have the potential to lead to novel treatment strategies.
Understand how mutations can cause an array of CF manifestations but may be amenable to nucleotide therapies, such as antisense oligonucleotides .
Describe how mRNA therapy has the potential to restore CFTR function to the lung, regardless of underlying CFTR mutation.