Supporting the translation of multiscale research in rare disease

Abstract

Summary: In anticipation of our upcoming Special Issue, ‘Translating Multiscale Research in Rare Disease’, we celebrate the strides taken in rare disease research that are improving patient diagnosis, prognosis and treatment.

Translating multiscale research in rare disease

“…This underscores the need for pre-clinical research that interrogates the mechanisms of these disorders to foster meaningful clinical progress in their diagnosis and treatment. Our goal in shaping this Special Issue of Disease Models & Mechanisms (DMM) was to compile original Research, Resources & Methods and Review-type articles that focus on the genomics, phenomics, networks, mechanisms and pathways of rare diseases ( Hooper and Hmeljak, 2023 ). In this Editorial, we discuss how the articles in this Special Issue are contributing to the progress of the field.…”