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.

Consortium Team:

Maria Grazia Roncarolo

Program Director

Rosa Bacchetta

Project Leader

Elizabeth Illingworth,

Scientific Advisor

Ken Weinberg

Project Leader

Jennifer Cory

Operations & Program Management

Rowel Padilla

Financial Analyst

Georg Hollander,

Scientific Director

Antonio Baldini

Scientific Advisor

Vittorio Sebastiano

Project Leader

Katja Weinacht

Project Leader

Ginger Exley

Administrative Assistant

Rhonda Perriman