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Questions and Answers
What is the goal of the Solve-RD project?
What is the goal of the Solve-RD project?
- To bring together clinicians from 15 countries
- To diagnose common health issues
- To solve unsolved rare diseases without a known molecular cause (correct)
- To analyze -omics data from healthy individuals
What percentage of rare diseases are estimated to have a genetic cause?
What percentage of rare diseases are estimated to have a genetic cause?
- 20%
- 40%
- 60%
- 80% (correct)
How is the Solve-RD project pursuing solutions for rare diseases?
How is the Solve-RD project pursuing solutions for rare diseases?
- By focusing on traditional clinical diagnoses
- By analyzing data from healthy individuals
- By pursuing data re-analysis and novel combined -omics approaches (correct)
- By developing new pharmaceutical treatments
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Study Notes
- Solve-RD is a Horizon 2020-supported EU flagship project.
- It brings together >300 clinicians, scientists, and patient representatives from 15 countries.
- It aims to solve unsolved rare diseases for which a molecular cause is not yet known.
- It is built upon a core group of four European Reference Networks.
- Two major approaches are being pursued: data re-analysis and novel combined -omics approaches.
- The first preliminary data re-analysis has already diagnosed 255 cases from 8393 exomes/genome datasets.
- Rare Diseases (RD) are individually rare but collectively a common health issue.
- Around 80% of RD are estimated to have a genetic cause.
- The time to a genetic diagnosis often takes several years and initial clinical diagnoses are incorrect in up to 40% of families.
- At least two scenarios allow boosting the current yield of WES: regular and massive-scale re-analysis of WES data and moving beyond WES to other -omics approaches.
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