TIGEM at the ESHG 2025 Conference
TIGEM will be actively participating in the 58th Annual Conference of the European Society of Human Genetics (ESHG), which kicks off this Saturday, May 24, in Milan and runs through May 27, 2025.
This event is one of the most important international gatherings in the field of human genetics, bringing together thousands of researchers, clinicians, and professionals to share the latest scientific breakthroughs and emerging clinical applications.
TIGEM has a long-standing presence at ESHG, having significantly contributed to the advancement of the field through pioneering research in gene therapy, cell biology, and the genetics of rare diseases. In 2025, TIGEM will once again play a leading role, with numerous talks, posters, and a strong presence in the scientific organization of the event — including several researchers serving as session chairs. This underscores the institute’s central role in the international genetics community.
Below is the full program of TIGEM’s contributions to this year’s conference.
ESHG 2025 Program
Saturday 24 May 2025
CHAIRS
- 08:30 | S03 – Gaucher's and Parkinson's disease: partners in crime (Chair: Brunella Franco, Space 3)
- 10:30 | C01 – Improving the diagnostic yield of rare diseases (Chair: Vincenzo Nigro, Gold Plenary)
SPEAKERS
- 11:00 | C03 – Developmental disorders (Speaker: Manuela Morleo, Space 1+2)
“Biallelic loss-of-function variants in endoplasmic reticulum membrane protein JKAMP underlie a neurodevelopmental disorder”
POSTERS
- Luciano Mottola – C08 Best Poster 1
“The Role of Antisense Oligonucleotides in Molecular Approaches to Developing Therapies for Ultra-Rare Genetic Diseases”
Sunday 25 May 2025
CHAIRS
- 10:30 | C16U R New – RNU-related disease discoveries (Chair: Brunella Franco, Gold Plenary)
SPEAKERS
- 11:15 | C16U R New (Speaker: Annalaura Torella, Gold Plenary)
“RNU4-2 screening in the Telethon Undiagnosed Diseases Programme: A cohort study“
- 11:30 | C17 – RNAseq for rare diseases (Speaker: Lorenzo Vaccaro, Auditorium)
“Genotype-phenotype single-cell transcriptomics for massive parallel assessment of genetic variants”
POSTERS
- Alessandro De Falco – PV02 Poster Viewing with Authors Group B
“A novel 9q34.11 microduplication syndrome with neurodevelopmental disorder and recurrent dysmorphisms”
- Luciano Mottola – PV02 Poster Viewing with Authors Group B
“The Role of Antisense Oligonucleotides in Molecular Approaches to Developing Therapies for Ultra-Rare Genetic Diseases”
- Nunziana Pezzella – PV02 Poster Viewing with Authors Group B
“The puzzle of OFD1: one gene, several disorders”
- Maria Magdalena Zawadzka – C23 Best Poster 2
“Insights into the role of long noncoding RNA in Inherited Retinal Disorders”
Monday 26 May 2025
CHAIRS
- 08:30 | S15 – Implementing gene editing (Chair: Brunella Franco, Space 1+2)
- 10:30 | C26 – Computational models in human genetics (Chair: Sandro Banfi, Space 1+2)
- 10:30 | C27 – New Treatments (Chair: Nicola Brunetti, Brown 3)
SPEAKERS
- 09:30–10:00 | S15 (Speaker: Alberto Auricchio)
“ExpEditing AAV gene therapy”
- 11:00 | C28 – Congenital anomalies (Speaker: Chiara De Leonibus, Brown 1+2)
“SESTRIN2-mediated activation of ER-Phagy in genetic ER storage disorders: Mechanisms and therapeutic implications”
- 11:45 | C28 (Speaker: Francesco Cifarelli)
“Genotype-phenotype correlation of OFD1-associated mutations”
WORKSHOP – Nicola Brunetti
- 14:20–14:25 | W18.6 – Emerging safety issues in gene therapy
- 15:40–15:45 | W18.7 – Concluding remarks (Space 4)
POSTERS
- Marianna Maddaluno – PV04 Poster Viewing with Authors Group D
“Arylsulfatase L (ARSL) controls Glycosaminoglycan Sulfation during Skeletal Development”
- Francesco Massaro – PV04 Poster Viewing with Authors Group D
“Dissecting the clinical variability observed in HNF1β associated phenotypes”
Tuesday 27 May 2025
CHAIRS
- 09:00 | S28 – More on penetrance and expressivity (Chair: Brunella Franco, Brown 1+2)
- 11:00 | C37 – Visual impairment genetic (Chair: Sandro Banfi, Space 3)