DONOR: MoDeling ChrOnic INtestinal Pseudo-Obstruction with RAD21-dependent Molecular Mechanisms

The discovery of new genes in patients with neuropathy-related CIPO is aimed at better understanding the mechanisms leading to severe gastrointestinal dysfunction, symptom generation and ultimately help developing novel therapeutic targets for this highly disabling and complex condition. The lack of models for studying the physio-pathological processes of enteric neuropathies may account for the large unmet need in effective treatment options for the management of CIPO patients.
Therefore, an in-depth characterization of the conditional mouse mutant carrying the RAD21 mutation previously detected in CIPO patients is pivotal to fully understand the relative contribution of RAD21 in terms of pathophysiological impact and altered molecular pathways. To our knowledge, the mutant Rad21^A626T mouse is currently the only available model for investigating one peculiar form of CIPO, while representing a valuable tool to design ad hoc therapies for a still largely neglected disorder.