RADRL: Prof. Federico Zara
Sede: IRCCS Istituto Giannina Gaslini IRCCS, Padiglione 16, quarto piano levante
Unige staff:
Prof.ssa Aldamaria Puliti (PA)
Prof.ssa Renata Bocciardi (PA)
Prof. Paolo Scudieri (RTDB)
Prof. Marcello Scala (RTDA)
IRCCS Istituto Giannina Gaslini staff
For details, please follow the link below:
https://www.gaslini.org/reparti/genetica-medica/
Pediatric Genetics Research
At the Pediatric Genetics Laboratory, research focuses on genetic diseases with a pediatric onset, such as Cystic Fibrosis, Fibrodysplasia Ossificans Progressiva, and Poland Syndrome. The lab also studies complex conditions like syndromes associated with chromosomal rearrangements, neurodevelopmental and autism spectrum disorders, epileptic encephalopathies, and epilepsy.
The main objectives of our research are:
To identify the molecular causes of genetic diseases.
To conduct in-depth studies of disease mechanisms.
To identify biological targets (both molecular and cellular) that, within the altered mechanisms caused by a genetic anomaly, can serve as a basis for developing therapeutic strategies.
These goals are achieved through advanced experimental approaches, including genomic analyses, the use of cellular models (primary cultures, induced pluripotent stem cells (iPSCs), neuronal differentiation and neural network models, airway differentiation models), and advanced technologies. These latter include genomic editing, electrophysiological techniques (patch-clamp, Ussing chamber), microelectrode arrays (MEAs), and cellular imaging and high-content imaging.
The identification of therapeutic targets allows us to develop targeted therapies using pharmacological agents that act on the underlying defect, innovative molecules like non-coding RNAs (ASOs, siRNAs, microRNAs), or gene expression modulation approaches (CRISPRa and CRISPRi).
Our research is supported by a wide and continuously updated range of equipment. Research projects are conducted as part of national and international initiatives (PNRR, PRIN, Telethon, Vertex-CFRIA) and involve collaboration with numerous research institutions, including the Italian Institute of Technology (IIT).
Educational Activities
The laboratory offers educational activities for students enrolled in various degree programs (Medicine and Surgery, Biological Sciences, Biotechnology, Biomedical Laboratory Techniques) who complete their required training to obtain their degree. The lab is also an integral part of the training network for the School of Specialization in Medical Genetics, which is open to both doctors and biologists/biotechnologists for their professional training. Finally, the lab hosts students enrolled in the PhD program in Pediatric Sciences (Genetics curriculum).