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Fondazione Telethon


Fondazione Telethon’S Genomic Program end the diagnostic odissey for hundreds of children

The program achieved a definitive genetic diagnosis in nearly half of enrolled children, identifying pathogenic variants across 330 genes. Families received timely diagnoses, allowing accurate genetic counseling and informed reproductive choices, while guiding clinical management and opening access to targeted therapies.

SourceFondazione Telethon·JournalGenetics in Medicine Open·TypeExperimental study·DateApr 20, 2026

Clonogenic hepatocytes drive postnatal liver growth and unlock new avenues for pediatric gene therapy

A study published in the Journal of Hepatology reveals that only 15-20% of neonatal liver cells are responsible for generating over 90% of the adult liver mass. This finding has major implications for pediatric gene therapy, allowing scientists to achieve more effective and durable correction of inherited liver diseases.

SourceFondazione Telethon·JournalJournal of Hepatology·TypeExperimental study·DateAug 28, 2025

New label-free 3D imaging technology offers breakthrough in diagnosing and treating lysosomal storage diseases

Researchers have developed a groundbreaking method to observe lysosomes in live suspended cells—quantitatively, in 3D, and without the use of chemical labels. The technology uses holographic tomography in flow cytometry configuration (HTFC) to identify morphological and spatial lysosomal changes in models of lysosomal storage diseases.

SourceFondazione Telethon·JournalACS Nano·TypeExperimental study·DateAug 6, 2025

Metachromatic Leukodystrophy (MLD) and gene therapy: a game-changing treatment backed by NEJM—Timing Is Everything

A recent study published in the New England Journal of Medicine found that gene therapy can significantly reduce the risk of severe motor and cognitive impairment in children with metachromatic leukodystrophy (MLD). The therapy, administered early, preserves motor function and cognitive abilities in most patients.

SourceFondazione Telethon·JournalNew England Journal of Medicine·TypeRandomized controlled/clinical trial·DateApr 24, 2025