More about Genetic Diseases

There are more than 6 500 different genetics diseases. Since it came into being, Imagine has proved its unique capabilities to accelerate innovation, both in diagnosis and treatment.

An update on research on epilepsies

Epilepsy affects more than 500,000 people in France; half of these cases start in childhood. Prof. Rima Nabbout, pediatric neurologist at Necker-Enfants malades hospital AP-HP, head of the rare epilepsies Reference Center for Rare Diseases and coordinator of the research project around this pathology at Imagine Institute, reviews the latest advances.

Rare epilepsies in children are often accompanied by behavioral problems, psychiatric disorders, and cognitive and social disorders.” To date, there is no cure. The treatment mainly consists of controlling the seizures and associated problems, but the group of rare epilepsies presents high levels of resistance to any type of treatment.

Equipe Edor Kabashi et Rima Nabout
Equipe Edor Kabashi et Rima Nabout © Laurent Attias

 

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Everything to know about celiac disease and its complications

Gluten
© DR

Celiac disease affects 1% of the population. The only treatment for it is a strict gluten free diet. It cures symptoms and protects from complications, in particular osteoporosis, infertility, autoimmune diseases and malignancies.

 

 

 

 

 

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Better understanding hereditary eye diseases

During the last thirty years, discoveries of hereditary eye diseases have multiplied thanks to the work of Jean-Michel Rozet at Imagine. They highlight the extraordinary genetic heterogeneity of the great majority of these diseases.

Jean-Michel Rozet
Jean-Michel Rozet © Laurent Attias

Jean-Michel Rozet studies congenital eye malformations, and degenerative disorders of the optic nerve and the photosensitive retina, for which treatment is in the very early stages at best, most often nonexistent.

 

 

 

 

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La maladie de lymphohistiocytose Familiale

Cette maladie génétique rare se caractérise par une réponse exagérée et altérée du système immunitaire. Le point avec Geneviève de Saint-Basile, qui étudie la lymphohistiocytose familiale, tant d’un point de vue clinique que fondamental.

Geneviève de Saint-Basile
Geneviève de Saint-Basile © Laurent Attias

Chez les patients atteint de lymphohistiocytose Familiale, lorsqu’un virus entre dans l’organisme, les lymphocytes T qui ont pour rôle de tuer les cellules infectées par un virus, n’assurent plus correctement cette fonction de défense, ce qui provoque fièvre persistante, fatigue et une irritabilité, accompagnées d’une augmentation de volume du foie et de la rate, et parfois de troubles neurologiques.

 

 

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Diabète rare monogénique de l'enfant

Activite de laboratoire
Activité de laboratoire © Laurent Attias

Les avancées de la génétique améliorent l'approche diagnostique et la prise en charge de ce diabète qui touche les jeunes enfants. De nouveaux traitements sont en cours d’essai clinique et, pour la 1ère fois, ces traitements, sans prise d’insuline, ne causent pas d’hypoglycémie. Une piste suivie de près par ces spécialistes du diabète chez l’enfant.

 

 

 

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papier paint

Cure genetic diseases can not be made without you

This wallpaper depicts Jeremy's impaired cells, with nephronophthisis, a serious genetic disorder that causes irreversible kidney failure. This disease takes a lot of place in the life of Jeremiah and his family.

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