FFC#10/2021

Theratyping orphan mutations in Italian cystic fibrosis patients: meeting unmet needs

AREA 2 Personalized therapies

FFC#10/2021

Theratyping orphan mutations in Italian cystic fibrosis patients: meeting unmet needs
€ 0 still needed
0%
€ 130.000 goal

pRINCIPAL INVESTIGATOR

Nicoletta Pedemonte (IRCCS Istituto Giannina Gaslini, UOC Genetica Medica, Genova)

Partner

Renata Bocciardi (Dip. di neuroscienze, riabilitazione, oftalmologia, genetica e scienze materno-infantili – DINOGMI, Università degli Studi di Genova)

Researchers

13

Category

AREA 2 Personalized therapies

Duration

2 years

Goal

€ 130.000

Funds raised

€ 130.000

Objectives

The main objective of the project is to determine the response of persons with cystic fibrosis (CF) from various CF centers to different modulators through the use of nasal cell cultures. This project is the extension of the previous FFC#9/2019 during which a network of Italian CF centers was created and persons with CF were characterized in terms of sensitivity to CFTR modulators. By means of nasal brushing, a minimally invasive procedure for obtaining nasal epithelial cells from persons with CF, nasal cells will be cultured and differentiated in vitro using specific protocols. On them, the research group will test the effect of modulators using electrophysiological techniques. The researchers also intend to evaluate possible secondary effects capable of altering the expression of CFTR due to mutations. The study will help in the selection of more effective drugs and define personalized treatments for each person with CF, including those with rare and not yet characterized mutations.


XIX Convention FFC Ricerca – download here a brief presentation of the project

WHO ADOPTED THE PROJECT

Delegazione FFC Ricerca di Genova

€ 57.000

Gruppo di sostegno FFC Ricerca Altomilanese – Legnano

€ 8.000

Gruppo di sostegno FFC Ricerca di Campiglione Fenile

€ 35.000

Delegazione FFC Ricerca di Napoli

€ 30.000

Gruppo di sostegno FFC Ricerca Altomilanese – Legnano

€ 8.000

Gruppo di sostegno FFC Ricerca di Campiglione Fenile

€ 35.000

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FFC#2/2025

Developing RNA-targeted therapies to regulate gene expression and restore CFTR synthesis