Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

Towards improved diagnosis and treatment of rare inherited microcytic hypochromic anemias related to iron metabolism

Project Coordinator

INSERM U773 University Paris Diderot, Site Bichat


Clara Camaschella IRCCS San Raffaele Genetics and Biology Milano, Italy
Maria del Carmen Sanchez Institut de Medicina Predictiva I Personalitzada des Cancer (IMPPC) Genetics and Epigenetics of Cancer Barcelona, Spain
Martina Muckenthier Universitätsklinikum Heidelberd Department of Pediatric Hematology, Oncology and Immunology Heidelberg, Germany

We have put up a consortium of four partners from France, Italy, Germany and Spain to work on rare genetic microcytic hypochromic anemias due to defects in iron homeostasis or iron acquisition by erythroid precursors. The participants of this project have a long-standing interest in iron metabolism and related genetic disorders. The specific objectives of the project are 1. to recruit new patients with rare congenital microcytic anemias related to iron disorders in order to define new clinical entities, to delineate the clinical and biological phenotypes of these rare anemias and to provide therapeutical guidelines 2. to identify causative genes underlying the anemia by different strategies including sequencing of candidate genes, positional cloning or global siRNA screening. Thereby, we expect to discover new genes important for iron acquisition by erythroid cells. Combined with the previous clinical definitions, this will allow genotype/phenotype studies of these rare anemias 3. to perform functional studies on known candidate genes involved in rare inherited microcytic anemias, or on the newly identified genes, to improve our understanding of their role in iron metabolism.

E-Rare 2012 - Created by Toussaint Biger