Genetic Predisposition to Disease, Rare Diseases
Conditions
Keywords
Rare Diseases, Genetic Predisposition, Omics Technology, Next Generation Sequencing (NGS)
Brief summary
In the DISCO-TWIN study (prospective, open-label molecular-genetic study), twin pairs with one healthy and one affected twin with molecularly undiagnosed diseases will be analysed by means of omics technologies and/ or re-analysed using existing datasets. Phenotype and omics data will be shared within the University Hospital Tübingen and with external collaborators to improve the diagnostic rate of the subjects included in the study.
Interventions
GENETICNGS Diagnostic
Blood take for genetic diagnostic.
Sponsors
University Hospital Tuebingen
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Twin pair monozygotic clinically (phenotypic) discordant twins * Unclear diagnosis * Suspected (mono-)genetic cause of the disease in one twin
Exclusion criteria
* Missing informed consent of both twin/ legal representative * No distinct phenotype
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of new Candidate Genes | Day 1 | Number of new Candidate Genes for complex or serious diseases through a comparative genetic analysis of monozygotic clinically discordant twins |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of putative disease causes | Day 1 | Number characterizations of the identified putative disease causes. |
| Number of diagnosis | Day 1 | Number of patients receiving appropriate therapy after successful diagnosis |
| Number of molecular causes of diagnostically unclear rare diseases | Day 1 | Number of molecular causes of diagnostically unclear rare diseases |
Countries
Germany
Contacts
Primary ContactJeannette Hübener-Schmid, Dr.
Backup ContactAndreas Dufke, PD Dr.
Outcome results
None listed