Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Area of Science:

• Genomics and Bioinformatics
• Rare Diseases Research
• Clinical Genetics

Background:

• Solve-RD is a European flagship project involving over 300 experts from 51 sites across 15 countries.
• It builds upon four European Reference Networks (ERNs) that collectively manage over 270,000 rare disease patients annually.
• The project addresses the critical need to find molecular causes for unsolved rare diseases.

Purpose of the Study:

• To solve unsolved rare diseases by identifying their molecular causes.
• To establish an innovative clinical research environment for data and expertise sharing.
• To facilitate the diagnosis of rare disease patients with previously unknown genetic underpinnings.

Main Methods:

• Massive data re-analysis of over 19,000 unsolved rare disease patient datasets.
• Application of novel combined multi-omics approaches for genetic analysis.
• Utilizing inconclusive exome and genome data with controlled access for analysis.

Main Results:

• Preliminary data re-analysis has successfully diagnosed 255 cases out of 8,393 analyzed exome/genome datasets.
• Identification of new disease genes is anticipated through collaborative data analysis.
• Improved diagnostic yield for rare disease patients across Europe.

Conclusions:

• Unprecedented collaboration in data and expertise sharing accelerates rare disease research.
• The Solve-RD project demonstrates a powerful model for tackling complex genetic disorders.
• This initiative promises to significantly increase the number of diagnosed rare disease patients in Europe.