Maladies génétiques d'expression pédiatrique

Informations générales

Directeur : Serge Amselem

L'Unité en quelques mots

Our research unit is devoted to the study of the pathophysiology of several human Mendelian disorders, including auto-inflammatory disorders and primary ciliary dyskinesia. We have access to cohorts of patients with these disorders, which are exceptional, both in their size and their phenotypic characterization. In spite of the identification, by our group, of several novel disease genes and a modifier gene, and functional studies concerning the corresponding proteins, the molecular and cellular bases of these disorders remain incompletely understood in the majority of these patients, justifying the search for new causative genes.

Équipes de recherche

L'Unité ne comporte qu'une seule équipe de recherche.

Coordonnées

Maladies génétiques d'expression pédiatrique
Hôpital Trousseau
UF de Génétique clinique et moléculaire
26, avenue du Dr Arnold Netter
75571 - Paris Cedex 12
Tél. : 01 44 73 52 39 

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