Using cellular models to inform diagnoses and predict therapeutic responses of individuals with cystic fibrosis

Cystic fibrosis;precision medicine;molecular therapy;molecular genetics;human genetics;Human Genetics and Molecular Biology

Han, Sangwoo TKazazian, Haig ;

Johns Hopkins University

关键词: Cystic fibrosis;    precision medicine;    molecular therapy;    molecular genetics;    human genetics;    Human Genetics and Molecular Biology;   

Others  :  https://jscholarship.library.jhu.edu/bitstream/handle/1774.2/60091/Thesis%20Part%201.docx?sequence=6&isAllowed=y

瑞士|英语

来源: JOHNS HOPKINS DSpace Repository

【 摘 要 】

Cystic fibrosis (CF) continues to be a premier disease model for genetics research by demonstrating many of the successes of molecular genetics research as well as the challenges still facing the genetics research community. Research in CF has elucidated the mechanisms underlying specific DNA variants that cause disease, leading to the development of modulator therapies that are able to very specifically and potently improve the function of specific variant versions of CFTR protein. The eventual goal of providing effective therapy to all individuals with CF will depend on the expansion of the approval of currently available drugs to all individuals who would benefit and the development of novel compounds to treat variants that are unresponsive to current modulators. These two goals will be dependent upon detailed molecular understanding of all variants found on disease associated alleles of CFTR. To this end, we have used cellular models to accurately measure CFTR function in vitro and to test the response of missense variants to CFTR small molecule drugs. The current outlook for treating CF is very optimistic as new modulators proceed through clinical trials and extend accessibility of therapies capable of treating the underlying cause of CF to a growing number of individuals.