About me
I am an early-career researcher with a background in Medical and Pharmaceutical Biotechnology and a Ph.D. in Pediatric Sciences (Genetics). My research focuses on rare genetic diseases, combining human cellular models and multi-omic approaches to investigate disease mechanisms and identify potential therapeutic targets.
Highlights
What’s I’m up to:
- Seminar
Selected oral presentation ESHG 2025- Early Career Award candidate
European Congress of Human GeneticsChiara AfricanoIRCCS Giannina Gaslini25/05/2025 - Seminar
7th Global CCHS Research Conference
October 2026Chiara AfricanoIRCCS Giannina Gaslini20/10/2026 - News
Ph.D. Thesis Defense Day
Doctor Europeaus
Bio & resume
I received my Master’s degree in Medical and Pharmaceutical Biotechnology and my Ph.D. in Pediatric Sciences (Genetics) from the University of Genoa, Italy. My research experience spans regenerative medicine and the genomics of rare diseases. During my Ph.D., I spent a research period at the IPNP in Paris, gaining international research experience. I subsequently continued my research at Tulane University in New Orleans, USA, where I focused on cellular and molecular mechanisms underlying rare genetic disorders. My current research at IRCCS Giannina Gaslini, Genoa, Italy, focuses on understanding disease mechanisms and identifying potential therapeutic targets using human cellular models and multi-omic approaches.
Research
My research focuses on the molecular mechanisms underlying rare genetic diseases, with particular emphasis on PHOX2B-related disorders and Congenital Central Hypoventilation Syndrome (CCHS). I use complementary human cellular models, including dental pulp stem cell-derived neurons and engineered cells carrying specific genetic constructs, to investigate disease-associated mechanisms. My work integrates transcriptomics, proteomics, single-cell RNA sequencing, and functional validation to identify disease-relevant pathways and potential therapeutic targets. My research experience also includes regenerative medicine and the molecular characterization of other rare genetic disorders.
Portfolio
A visual gallery of my research
Research projects and collaborative experiments
Network
The people I collaborate with: