National Research Council of Italy

Institute of Biosciences and BioResources

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IBBR Project #285

Combining the power of C. elegans for genetic and drug screenings and in vitro models to study CHD7 and semaphorin interactions and identify novel pharmacological targets for CHARGE syndrome therapies.
Project ID 285
ID INTLI21ACARI_01
Acronym Non disponibile
Project acronym and title Combining the power of C. elegans for genetic and drug screenings and in vitro models to study CHD7 and semaphorin interactions and identify novel pharmacological targets for CHARGE syndrome therapies.
Contract non disponibile
Description CHARGE syndrome (CS) is a rare genetic disease, mainly due to mutations of the chromatin remodeller gene CHD7 and characterized by multiple developmental malformations. These include eye coloboma, heart defects, choanal atresia, reproductive defects, developmental delay and deafness. No pharmacological treatments are available and the affected individuals, mainly children, display high phenotypic variability and severity of the symptoms. A possible explanation of this heterogeneity, is that mutations in other genes with an epistatic relationship to CHD7 may function as ‘modifiers’ to alter the expressivity of disease traits in the context of CHD7 haploinsufficiency. Several are the evidences from other researchers and from our pilot data indicating that the genes encoding semaphorins and their receptors might be good candidates as CHD7 genetic interactors. Thus, for this grant proposal, we wish to combine for the first time in the field an unparalleled series of C.elegans mutants with a drug screening and mouse cell lines to reveal the genetic interactions between CHD7 and semaphorins and to identify novel potential pharmacological targets. This knowledge will be fundamental to plan future therapies aimed at bypassing CHD7 deficiency in CS-patients.
Funding body CHARGE Syndrome Foundation Research Grant Program 2021
UOS Napoli
Role Coordinatore/Research Unit
Signatory Anna Cariboni
Contact Person Di Schiavi Elia
Starting of activities 2021
Ending of activities 2022
Extension -
Amount (euro) 42208.40
Technological Area -
Technological Field Basi molecolari e cellulari della vita degli organismi
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Istituto di Bioscienze e Biorisorse (IBBR/CNR)
Via G. Amendola 165/A, I-70126 Bari (Italy)
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