Extraordinary CRTD Seminar - Prof. Diana Le Duc, University Hospital Carl Gustav Carus at TUD

Host: Mareike Albert (CRTD)

Title: “Closing the Gap: From Genes to Diagnosis”

Abstract: In my talk “Closing the Gap: From Genes to Diagnosis”, I will address a central challenge in human genetics: translating genetic findings into clinically meaningful diagnostic information. Despite rapid advances in sequencing technologies, substantial gaps remain between identifying genetic variants and interpreting their clinical relevance. I will outline how we systematically integrate genomic data from patients with molecular, cellular, biochemical, and clinical findings to accelerate and refine diagnostic workflows. Through integrative analyses, functional validation, and interdisciplinary collaboration, we aim to deepen our understanding of disease mechanisms, identify diagnostic markers, and ultimately improve patient-centered decision-making. In doing so, this work contributes to closing the persistent gap between genetic information and clinical diagnosis.