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Genetic Causes of Discrepant Clinic in Monogenic Twins

Genetic Causes of Discrepant Clinic in Monogenic Twins

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Overview

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.

Eligibility

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

Study details
    Rare Diseases
    Genetic Predisposition to Disease

NCT04046796

University Hospital Tuebingen

26 January 2024

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