22q11.2 Deletion Syndrome (22q11DS) Consortium
The mission of the Center for Definitive and Curative Medicine (CDCM) is to cure patients with currently incurable diseases through the development of innovative cell- and gene-based therapies (CGT). These therapies will only be made reality by investing in research to understand the fundamentals of a particular disease. Launched in 2016, the 22q11.2 Deletion Syndrome (22q11DS) Consortium embarked upon pioneering research into the immune dysfunction in 22q11DS patients. The work of this multi-disciplinary, multi-institutional team focuses on the central role of the thymus, which produces T cells able to orchestrate an immune response. At the time, little was known about the precise changes in the thymus of patients affected by 22q11DS that could precisely explain their lack of a normal immune response. The consortium has made significant and exciting progress in our understanding of the cellular and molecular consequences of 22q11DS. This knowledge will be important for novel treatments in the future to establish a normal immune system in these patients.
Specific research projects are largely funded by the generous gift of a philanthropic donor, and are supplemented with funds from grant making bodies and from institutional support. In addition, because the Consortium is embedded in the CDCM, our researchers benefit from the broader infrastructure that exists to support translational research in cell and gene therapy. As discoveries are made within the Consortium, we leverage the expertise and experience of the CDCM leadership to advance projects to the clinical stage.