Research

Research topics

Development of human DPSC-derived neuronal models for rare diseases
Developing patient-derived neuronal models from dental pulp stem cells to model CCHS, PWS and other diseases in a physiologically relevant system for mechanistic and therapeutic studies.
Molecular mechanisms of PHOX2B-associated CCHS
Dissection of how PHOX2B polyAla expansions alter neuronal physiology, focusing on cell-cycle, oxidative stress and differentiation pathways as therapeutic targets in CCHS.
Genomic, transcriptomic, and functional approaches to disease mechanisms
Integration of bulk and single-cell omics with functional assays to link genetic variants to cellular phenotypes and therapeutic hypotheses in rare neurological diseases.

Research projects

Most recent research projects

CCHS-NEST
Multi-omic investigation in stem cells from human exfoliated deciduous teeth of CCHS patients and in derived neuronal cell lines to find new drug candidates
Theme Development of human DPSC-derived neuronal models for rare diseases
Developing patient-derived neuronal models and multi-omics approaches to uncover CCHS mechanisms and identify potential pharmacological treatments.
Leading scientist Chiara Africano (Principal Investigator)
Duration 2026 - 2029

Publications

Most recent publications

Title	Year	Author	Venue
PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS	2026	Chiara Africano, Tiziana Bachetti, Eleonora Di Zanni, Giuseppe Santamaria, Roberto Cusano, Ignazia Prigione, Genny Del Zotto, Paolo Uva, Isabella Ceccherini	Molecular Medicine
Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome	2024	Chiara Africano, Tiziana Bachetti, Paolo Uva, Gabriel Pitollat, Genny Del Zotto, Francesca Giacopelli, Giada Recchi, Nicolas Lenfant, Amélia Madani, Nathan Beckouche, Muriel Thoby-Brisson, Isabella …	Molecular Therapy Nucleic Acids
Preconditioned Mesenchymal Stromal Cell-Derived Extracellular Vesicles (EVs) Counteract Inflammaging	2022	Cansu Görgün; Chiara Africano; Maria Chiara Ciferri; Nadia Bertola; Daniele Reverberi; Rodolfo Quarto; Silvia Ravera; Roberta Tasso	Cells

All publications

Conferences and talks

ACTG2 R257C mutation results in proteostasis disruption in human cellular models.
poster presentation
Rimini, 24/09/2025
Italian Society of Human Genetics (SIGU) congress 2025
Single-cell RNA sequencing of neurons derived from stem cells from human exfoliated deciduous teeth of patients affected with congenital central hypoventilation syndrome
Keynote
European Society of Human Genetics (ESHG) Congress 2025, Milan, 25/05/2025
Candidate for Early Career Awards 2025
From transcriptomic signatures to therapeutic opportunities: a CMap-based strategy for Congenital Central Hypoventilation Syndrome
Invited talk
IRCCS Giannina Gaslini, 13/05/2025
Ciclo seminari della Ricerca
Identification of therapeutic Molecules to Treat respiratory deficits associated with Congenital Central Hypoventilation Syndrome
co-author
online, 4/03/2025
4th Virtual CCHS Research Conference

All Conferences and talks

Awards and honors

CCHS-NEST
Principal investigator of competitively awarded national Starting Grant Project founded by Ricerca Finalizzata Ministero della Salute.