NCT06337396

Omic Approaches to Neurodevelopmental Disabilities

Omic Approaches to Characterize the Functional and Phenotypic Consequences of Rare Structural Genomic Variants in Neurodevelopmental Disabilities and Congenital Anomalies

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 22 (actual)
• Sponsor: IRCCS Eugenio Medea · Academic / Other
• Sex: All
• Age: 4 Years – 18 Years
• Healthy volunteers: Not accepted

Summary

to bridge the gap between the molecular structure of CNV and the effect on the phenotype, considering NDDs as complex diseases, as they are a consequence of the imbalance in several dosage-sensitive genes, we might try to approach them through different --omics investigations (genomics, epigenomics, transcriptomics) according to the emerging field of network medicine. This holistic can provide valuable insight into understanding peculiar molecular mechanisms and unsuspected molecular interactions that contribute to the pathogenesis of the condition and possibly pave the way for uncovering new drug strategies that even if they do not heal the patient may improve his performance and the social interaction

Conditions

• Neurodevelopmental Disorders

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	WGS and transcriptome analysis	In light of the inconsistencies between the CNV and the phenotypic outcome, we expect that WGS analysis will reveal that part of these CNVs have a more complex structure than the one disentangled by CMA and FISH. We hypothesize that CNV should reflect a perturbed genome folding configuration at several hierarchical levels of chromatin organization, such as disruption of TADs boundaries. To investigate this aspect, we plan to examine expression profiles of immortalized lymphoblastoid B-cell lines (LBLs) derived from normal controls and patients. We expect to find a subset of down- or up-regulated genes located inside the rearranged region which in turn may alter the expression of other genes, possibly leading to perturbation of disease-related pathways

Timeline

• Start date: 2021-05-05
• Primary completion: 2023-07-28
• Completion: 2023-12-31
• First posted: 2024-03-29
• Last updated: 2024-03-29

Locations

1 site across 1 country: Italy