Multi-Dimensional Genomic Dissection of Ring Chromosome 14 Syndrome

Condition(s) studied

Investigational drug(s) / intervention(s)

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

Study 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.

Eligibility

Primary outcome measure(s)

• LRS analysis of SVs occurring on chromosome 14 — 8 months
  1. Resolving the sequence breakpoints of structural ring rearrangement in patients with r(14)S. 2. Construct a 3D cell-specific molecular signature of r(14)S patients. 3. Identify regulatory mechanisms that are important in the pathophysiology of r(14)S.

Trial sites (1)

More IRCCS Azienda Ospedaliero-Universitaria di Bologna trials in Italy