Two expert‑led facilitation windows linked to EJPRD‑developed MOOCs, give learners the opportunity to engage directly with specialists in health data governance and translational research for rare diseases.
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.
