Study of Genetic Causes in Identical Twins With One Twin Affected by a Rare Disease

What this Trial Is About

Researchers are studying twins where one twin has a rare, unexplained disease and the other is healthy. This observational molecular-genetic study aims to identify new genetic causes behind these unclear diagnoses using advanced omics technologies and re-analysis of existing data. The study focuses on improving diagnosis for these twins with suspected genetic conditions. The study involves collecting blood samples for genetic testing from both twins in each pair. One twin is affected by the rare disease, while the other remains healthy. Data from genetic analyses and clinical observations will be shared within the University Hospital Tfcbingen and with external collaborators to enhance understanding of these diseases. Participants will undergo blood sampling for genetic diagnostics and have their clinical information collected as part of routine care. Researchers will measure the number of new candidate genes, putative disease causes, and confirmed diagnoses discovered during the study. The total duration and detailed follow-up plans are based on standard clinical care and data sharing agreements, with a focus on improving diagnostic outcomes for rare genetic diseases in twins.

Genetic Causes of Discrepant Clinic in Monogenic Twins