Figure 2.

From identification of ID-related genes to therapy. Schematic representation of the long, and still unaccomplished, path that goes from the identification of the IDD-causing mutation to therapy. After identification of the mutation, the generation and characterization of animal model reproducing the same genetic defects enable the description of the molecular mechanisms underlying the disease and the assessment of therapies. Complementing the studies of animal models, iPSCs derived from the patients can be also used to investigate pathoetiology and assess possible therapies. Therapeutic strategies that provide positive results in the cellular and animal models, such as drug treatment and gene editing or epi-editing, will be eventually evaluated in clinical trials.