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.
Amsterdam and online, convening clinicians, scientists and advocates to share progress and the power of patient led policy to improve diagnosis and care.
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.
