Study Results
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Basic Information
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COMPLETED
720 participants
OBSERVATIONAL
2019-01-01
2024-01-01
Brief Summary
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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
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Detailed Description
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Together, these diseases represent a considerable challenge in terms of medical care and genetic counseling, underlining the major deficits in fundamental and clinical knowledge to date.
At the Hôpital Necker-Enfants malades and the Institut des Maladies Génétiques Imagine, between 20,000 and 25,000 patients suffering from a wide range of developmental disorders are treated every year. Multidisciplinary consultations, together with state-of-the-art genomic investigations such as comparative genome hybridization (CGH) and whole exome sequencing (WES), provide the research and clinical teams involved with in-depth knowledge of the natural history of these diseases and the phenotypes of affected patients, as well as a better understanding of their genetic basis. Despite this, the rate of unknown diagnoses is very high (over 65-70% of cases remain without a distinct pathophysiological label), due to both the heterogeneity of these diseases and the complexity of their genetic architecture, probably involving non-coding DNA in many cases. Studying this non-coding DNA therefore requires technologies such as whole genome sequencing (WGS).
The main aim of the DEVO-DECODE project is to align our currently limited knowledge of the genetic architecture of developmental disorders with our more advanced knowledge of their "phenome". To meet this challenge,we propose to draw on the expertise and resources available within the research and clinical teams at Institut Imagine and Hôpital Necker, in order to:
1. create well-characterized, homogeneous cohorts.
2. systematize the collection of samples from patient care for biobanking and other studies.
3. carry out WGS studies not only to refine exome sequencing data, but above all to identify and validate non-coding DNA alterations, in both transcribed and non-transcribed genomic domains.
4. develop precise preclinical models for functional studies of candidate pathophysiological pathways.
Conditions
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Study Design
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CASE_ONLY
RETROSPECTIVE
Interventions
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Whole genome sequencing and Genome-Epigenome-Phenome Associations
* Whole genome sequencing (WGS) and bioinformatics analysis
* Functional validation
* Genome-Epigenome-Phenome Associations
Eligibility Criteria
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Inclusion Criteria
* Pediatric and adult patients with hereditary diseases and relatives who have been informed of the research project and who have not objected to the re-use of their data and biological samples samples
Exclusion Criteria
1 Year
90 Years
ALL
No
Sponsors
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Imagine Institute
OTHER
Commissariat A L'energie Atomique
OTHER_GOV
Institut National de la Santé Et de la Recherche Médicale, France
OTHER_GOV
Responsible Party
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Locations
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Institut Imagine
Paris, , France
Countries
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Other Identifiers
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C19-64
Identifier Type: -
Identifier Source: org_study_id
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