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Decoding Developmental Disorders in Humams
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Summary
The DEVO-DECODE project aims to align our currently limited knowledge currently limited knowledge of the genetic architecture of developmental with our more advanced knowledge of their "phenome". To this end, we aim to establish a homogeneous cohort of patients with with developmental disorders to identify new genetic variants genetic variants, and thus study the association between developmental and genetic variants. Secondary objectives are:2 * Carry out WGS studies not only to refine exosomal sequencing data exome sequencing data, but above all to identify and validate non-coding non-coding DNA alterations, in both transcribed and non-transcribed transcribed or non-transcribed genomic domains * Develop precise preclinical models for functional studies of pathophysiological pathways
Official title: Decoding Developmental Disorders in Humams, Devodecode
Key Details
Gender
All
Age Range
1 Year - 90 Years
Study Type
OBSERVATIONAL
Enrollment
720
Start Date
2019-01-01
Completion Date
2024-01-01
Last Updated
2026-08-20
Healthy Volunteers
Not specified
Conditions
Interventions
Whole genome sequencing and Genome-Epigenome-Phenome Associations
* Whole genome sequencing (WGS) and bioinformatics analysis * Functional validation * Genome-Epigenome-Phenome Associations
Locations (1)
Institut Imagine
Paris, France