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PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing
Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
Summary
Using long-read sequencing (LRS) technology to achieve molecular diagnosis in patients with rare genetic diseases who have already been tested by state-of-the-art genetic analysis with ambiguous or negative results. This will lead to efficient and reliable identification and clinical interpretation of cryptic and complex structural genomic variants, which represent the central challenge for the coming decades in human genetics.
Key Details
Gender
All
Age Range
28 Days - Any
Study Type
OBSERVATIONAL
Enrollment
30
Start Date
2024-10-01
Completion Date
2026-09-30
Last Updated
2025-01-31
Healthy Volunteers
No
Conditions
Interventions
DNA/RNA sequencing and bioinformatic data analysis
DNA will be extracted from peripheral blood or from somatic tissues. In some cases a skin biopsy will be performed to obtain fibroblasts for further analysis (DNA/RNA extraction and preparation of cell culture for high-throughput genomic and epigenomic technique (Hi-C). LRS will be performed on extracted DNA using Oxford Nanopore Technology by two different approaches: * Target, in samples with monoallelic alterations in genes related to autosomal recessive disease; * Genomic in other cases. Sequencing data will be analyzed through a dedicated bioinformatics pipeline, to reconstruct the tridimensional structure of chromatin and the regions
Locations (1)
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy