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Multi-Dimensional Genomic Dissection of Ring Chromosome 14 Syndrome
Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
Summary
MD-RING will explore the hypothesis that position effects and TAD alterations act as an unprecedented pathomechanism in r(14)S. This will contribute to a better understanding of genotype-to-phenotype correlations, creating an important scientific resource for the study of this and other ring syndromes, with the ultimate objective to offer improved family counseling , patient care and to identify potential new therapeutic options.
Key Details
Gender
All
Age Range
28 Days - Any
Study Type
INTERVENTIONAL
Enrollment
15
Start Date
2023-12-15
Completion Date
2025-03-15
Last Updated
2025-02-07
Healthy Volunteers
No
Conditions
Interventions
LRS analysis
Long Read Sequencing (LRS) and High-throughput chromosome conformation capture (Hi-C) analysis to explore and functionally characterize the r(14) event and its impact on the three-dimensional (3D) genomic architecture inside the cells of r(14)S patients
Locations (1)
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy