ERDERA marked the close of its second year with an Open Session on ultra-rare diseases, bringing together European, regulatory and scientific perspectives on how innovation can reach patients.
Outside traditional drug development pathways, clinicians and scientists face the challenge of systematically evaluating whether individual patients with severe ultrarare diseases might be eligible for and potentially benefit from individualized mutation-specific RNA therapies.
Altogether, we established a benchmark dataset for aberrant gene underexpression prediction in 49 human tissues, addressing an unmet need in the area of high-impact variant effect prediction.
