The CFTR variant profile of Hispanic patients with cystic fibrosis: Impact on access to effective screening, diagnosis, and personalized medicine

2020 ◽  
Vol 29 (4) ◽  
pp. 607-615
Author(s):  
Megan N. Januska ◽  
Laura Marx ◽  
Patricia A. Walker ◽  
Maria N. Berdella ◽  
Elinor Langfelder‐Schwind
Keyword(s):  
Cystic Fibrosis ◽  
Personalized Medicine ◽  
Effective Screening ◽  
Hispanic Patients ◽  
And Personalized Medicine

Intestinal organoids and personalized medicine in cystic fibrosis

2016 ◽  
Vol 22 (6) ◽  
pp. 610-616 ◽  
Author(s):  
Jacquelien Noordhoek ◽  
Vincent Gulmans ◽  
Kors van der Ent ◽  
Jeffrey M. Beekman
Keyword(s):  
Cystic Fibrosis ◽  
Personalized Medicine ◽  
Intestinal Organoids ◽  
And Personalized Medicine

scholarly journals Elexacaftor–Tezacaftor–Ivacaftor Therapy for Cystic Fibrosis Patients with The F508del/Unknown Genotype

Antibiotics ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 828
Author(s):  
Marika Comegna ◽  
Vito Terlizzi ◽  
Donatello Salvatore ◽  
Carmela Colangelo ◽  
Antonella Miriam Di Lullo ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Personalized Medicine ◽  
Epithelial Cells ◽  
The Other ◽  
Nasal Epithelial Cells ◽  
Minimal Function ◽  
Functional Studies ◽  
Rare Mutations ◽  
Clinical Benefits ◽  
And Personalized Medicine

The new CFTR modulator combination, elexacaftor/tezacaftor/ivacaftor (Trikafta) was approved by the FDA in October 2019 for treatment of Cystic Fibrosis in patients 6 years of age or older who have at least one F508del mutation in one allele and a minimal-function or another F508del mutation in the other allele. However, there is a group of patients, in addition to those with rare mutations, in which despite the presence of a F508del in one allele, it was not possible to identify any mutation in the other allele. To date, these patients are excluded from treatment with Trikafta in Italy, where the CF patients carrying F508del/unknown represent about 1.3% (71 patients) of the overall Italian CF patients. In this paper we show that the Trikafta treatment of nasal epithelial cells, derived from F508del/Unknown patients, results in a significant rescue of CFTR activity. Based on our findings, we think that the F508del/Unknown patients considered in this study could obtain clinical benefits from Trikafta treatment, and we strongly suggest their eligibility for this type of treatment. This study, adding further evidence in the literature, once again confirms the validity of functional studies on nasal cells in the cystic fibrosis theratyping and personalized medicine.

scholarly journals Elexacaftor–Tezacaftor–Ivacaftor Therapy for Cystic Fibrosis Patients with the F508del/Unknown Genotype

2021 ◽  
Author(s):  
Marika Comegna ◽  
Vito Terlizzi ◽  
Donatello Salvatore ◽  
Carmela Colangelo ◽  
Antonella Miriam Di Lullo ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Personalized Medicine ◽  
Epithelial Cells ◽  
The Other ◽  
Nasal Epithelial Cells ◽  
Minimal Function ◽  
Functional Studies ◽  
Rare Mutations ◽  
Clinical Benefits ◽  
And Personalized Medicine

The new CFTR modulator combination, elexacaftor/tezacaftor/ivacaftor (Trikafta) was approved by the FDA in October 2019 for treatment of Cystic Fibrosis in patients 12 years of age or older who have at least one F508del mutation in one allele and a minimal-function or another F508del mutation in the other allele. However, there is a group of patients, in addition to those with rare mutations, in which despite the presence of a F508del in one allele, it was not possible to identify any mutation in the other allele. Today these patients are excluded from treatment with Trikafta. In Italy CF patients carrying F508del/unknown represent about 3% (156 patients) of the overall Italian CF patients. In this paper we show that the Trikafta treatment of nasal epithelial cells, derived from F508del/Unknown patients, results in a significant rescue of CFTR activity. Based on our findings, we think that the F508del/Unknown patients considered in this study could obtain clinical benefits from Trikafta treatment, and we strongly suggest their eligibility for this type of treatment.This study, adding further evidence in the literature, once again confirms the validity of functional studies on nasal cells in the cystic fibrosis theratyping and personalized medicine.

scholarly journals Will Big Data and personalized medicine do the gender dimension justice?

AI & Society ◽  
2021 ◽  
Author(s):  
Antonio Carnevale ◽  
Emanuela A. Tangari ◽  
Andrea Iannone ◽  
Elena Sartini
Keyword(s):  
Big Data ◽  
Personalized Medicine ◽  
And Personalized Medicine
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