Omic Approaches to Neurodevelopmental Disabilities

IRCCS Eugenio Medea

Status: Completed

Conditions: Neurodevelopmental Disorders

Treatments: Diagnostic Test: WGS and transcriptome analysis

Study type: Interventional

Funder types: Other

Identifiers

NCT06337396

1001

Details and patient eligibility

About

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

Enrollment: 22 patients

Sex: All

Ages: 4 to 18 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

Patients with neurodevelopmental disorders carrying a genomic rearrangement identified through chromosomal microarray analysis (CMA)

Exclusion criteria

NA

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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22 participants in 1 patient group

Whole Genome Sequencing (WGS) and transcriptome analysis

Experimental group

Description:

to investigate by WGS analysis the genome of selected patients with a detailed clinical characterization. WGS will be also performed on the DNA of the parent from which originated the CNV to look for any potential genomic signatures predisposing to the rearrangement detected in his/her son/daughter. to investigate the expression profiles of structural variants by transcriptome analysis

Treatment:

Diagnostic Test: WGS and transcriptome analysis