The pathway toward innovation though an integrated research scheme in the Imagine IHU
For research and innovative care, our objectives are:
- To further develop exceptional cohorts of well-characterized patients (both children and adults) and to describe the natural history of rare diseases from birth to adulthood including common phenotypic modifications observed with age. The fields to be immediately covered are susceptibility to infections (primary immunodeficiencies), susceptibility to autoimmunity and inflammation, genetic disorders of hemoglobin, kidney diseases, development and birth defects, metabolic and neurological diseases, intestinal diseases, and skin diseases. Altogether they account for cohorts of 32,000 patients. A yearly accrual of 1,600 patients is expected based on activities of clinical units and relevant rare disease referral centers within the ICaRPs. One of our major goals is to extend these activities to new fields, once all the segments of an ICaRP are in place. New fields will include congenital heart defects, endocrine disorders and severe psychiatric disorders of childhood (notably autism).
- To boost genomic studies of these cohorts through the advent of technology enabling high-throughput DNA/RNA sequencing. This approach will have a major impact on research tracks and on development of new diagnostic tools.
- To foster as a consequence relevant pathophysiological studies with the help of adequate technological platforms.
- To develop new diagnostic tools/biomarkers for personalized diagnosis, screening (if ethically justified and cost effective) and monitoring of therapeutics based on genomic, proteomic and metabolomic approaches.
- To develop innovative therapeutics, based on understanding of the pathophysiology of targeted diseases (from organ transplantation, to cell and gene therapy and drugs development). The in-house clinical research facilities (clinical investigation centers) and appropriate partnerships with industry represent solid assets for this major task.
- To improve patients health care quality in particular by setting continuity of care at the pediatric/adult border and by defining relevant indicators to assess advances in care for patients with rare diseases (such as time to diagnosis, time to adequate therapy, indexes for quality of life for patients and family environment, etc…). These objectives will require close collaborations with expert research groups in health economics and other social and human sciences.
Altogether, these objectives should result in a significant acceleration in our knowledge of many rare diseases and lead to new concepts in biology, to new diagnostic tools, and therapeutics and to generation of models for more common diseases. Implementation along these lines is likely to improve the care of a high number of patients with rare diseases ant to provide economic gain through industrial partnerships.
It is our belief that daily interaction between clinicians and scientists, based on cross-fertilization is required for the development of fruitful research leading to significant advances for the benefit of patients with rare diseases. However, as integrated as they will be, these teams cannot implement their projects without access to up-to-date, flexible and evolving platforms that are necessary for both experimental and clinical research projects. These two principles, which are at the heart of translational research, are what makes the IHU distinctive: we will work across seven thematic ICaRPs on rare diseases that will develop their projects by benefiting 3 cross-disciplinary structures, i.e. experimental platforms, clinical platforms and laboratory of medicine and pathology.
The Imagine IHU project is a unique entity in France that aims at developing and integrating approaches to tackle the many issues raised by rare diseases.