Fostering excellence in research to identify the mechanisms at the root of genetic diseases.

Research: a scientific adventure

The Imagine Institute brings together 24 research laboratories. They all work on genetic diseases, each in their own particular field or therapeutic stage.

Genetic diseases are numerous and complex. They affect all the biological systems of the human body. A long process is needed to understand them, beginning with the most accurate description possible of the disease’s clinical signs.

The goal of the first key stage is to identify the gene responsible. This leads into a scientific project with new developments that are often unexpected.

The role of the gene is to produce a protein. Sequencing the gene may allow the structure of the protein and the way it acts to be deduced. It is necessary to identify the conditions in which the protein is present: in which cells, and where precisely in them, is it expressed? What are the molecular consequences of deactivating it completely or partly, or conversely its overexpression in cells or model organisms? This long path gradually rebuilds the biological course of its action. The deduction can then be made, as to how this mutation causes any particular pathological change.

An ambitious scientific program for the Imagine Institute

This is valuable knowledge, because it enriches our understanding of human biology, and more specifically human development. It also opens the door to progress in medicine: definition of diagnostic and predictive markers, and above all new therapies, whether medical (chemical or biological), cellular, genetic, surgical or instrumental.

Vital new, clinical questions arise from such progress. A new research program will doubtless further improve the care of the patients concerned.

The Institute's scientific program is concentrated on improving the understanding of physio-pathological mechanisms involved in the following main scientific fields :

  • Differentiation of stem cells
  • Embryo-fetal morphogenesis
  • Developmental biology and its anomalies, in the nervous system, muscles, kidneys, skin, bones and intestines
  • Metabolic diseases
  • Immunology and infectious diseases

Priority lines of investigation

Two main fields were considered to take priority :

  • The provision of new diagnostic tools. Pre-implantation diagnosis and prenatal diagnosis are an important part of the project. The aim is to improve prenatal genotyping diagnostics, in order to optimize their reliability, to reduce their invasive character, simplify them, and cut diagnostic time.
  • The provision of new therapeutic solutions, arising from scientific advances such as cellular therapy or gene therapy, as well as the discovery of new drugs.

The Institute for genetic diseases Imagine, has an ambitious scientific program and was able to be included in a list of agreed objectives approved with the Ministry for Research, renewable for 5 years. It has also been validated by the International Scientific Council on March 5, 2009, and has since been reassessed in November 2011, December 2012 and October 2013.

Research news

A new lab at Imagine in March 2016 "The Clinical Bioinformatics laboratory"

Antonio Rausell will join Imagine in March 2016 as Director of the Clinical Bioinformatics laboratory.

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World first: initial results from gene therapy point to a cure for a patient with sickle cell disease

In September 2014, the team led by Professor Marina Cavazzana performed the gene therapy on a teenager with sickle cell disease at Necker-Enfants Malades hospital, AP-HP and the Imagine Institute. 

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Group leader positions at the Imagine Institute for Genetic Diseases

Imagine  is inviting applications for group leader positions, in any field directly linked or related to the basis, pathophysiology and treatment of genetic diseases, with special emphasis on Neuroscience, Develoment and stem cells and computational biology.

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