Research to Find Genetic Causes and Improve Diagnosis in Patients With Rare Diseases Using Advanced Genetic Testing and Family Analysis

What this Trial Is About

Researchers are investigating rare diseases that have not yet been diagnosed at the molecular level due to technical challenges or unclear clinical significance of genetic findings. This study aims to improve diagnosis by reanalyzing previously collected genetic data using new algorithms and combining them with other biological information from patients and their families. The project is part of the Solve-RD initiative supported by the European Union, which collaborates with European Reference Networks focused on rare diseases to enhance understanding and diagnosis. The study involves analyzing existing genetic data from about 18,000 patients collected through previous diagnostic or research efforts, with no new visits required for those participants. Additionally, the study will perform new multi-omics analyses on fresh samples from 500 patients and their healthy parents, involving the collection of blood, urine, and tissue samples. This trio analysis approach helps identify new genetic variants related to disease and validate new disease genes. Participants contribute by providing biological samples and allowing genetic testing through next-generation sequencing without needing to attend study visits. Researchers will evaluate molecular genetic results and track diagnoses, gene defect characterizations, and the number of patients who receive appropriate therapies following diagnosis. The study focuses on gaining scientific knowledge to support future treatments and better diagnostics for hereditary rare diseases.

Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases