NCT04399694

Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders

Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 56 (actual)
• Sponsor: Duke University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders. We will particularly focus on patients with a diagnosed genetic disorder that has inconclusive genetic findings.

Detailed description

To perform this study, we will use patient DNA and RNA that is isolated from blood samples. DNA will be sequenced (targeted capture and/or whole genome DNA sequencing (WGS)) to identify any non-coding single nucleotide variants (SNVs), smaller insertions/deletions (indels), or larger structural variants (SVs). RNA will be sequenced (RNA-seq) to identify genes that are expressed in a differential and/or allele-specific manner, which may indicate a functional non-coding or splicing variant. We will test the function of non-coding variants using high-throughput reporter assays and CRISPR based methodologies.

Conditions

• Genetic Disease
• Inborn Errors of Metabolism
• Glycogen Storage Disease
• Lysosomal Storage Diseases
• Storage Disease

Timeline

• Start date: 2020-03-03
• Primary completion: 2024-04-11
• Completion: 2024-04-11
• First posted: 2020-05-22
• Last updated: 2026-01-15

Locations

1 site across 1 country: United States