France (Bordeaux)

Ville
Bordeaux
Nom du centre
National competence center for rare diseases "porphyrias and rare anemias”
Adresse complète
Service de biochimie, Hôpital Pellegrin, CHU de Bordeaux
PTMP 2ème étage, laboratoire de biochimie spécialisée
Place Amélie Raba Leon, F-33000 Bordeaux
Email
emmaremovenuel.richard@u-bordeaux.fr
Tél
+33 5 57 82 01 56
Fax
+33 5 56 79 60 20
Directeur
Pr. Emmanuel RICHARD, MD-PhD, Professor of Biochemistry and Molecular Biology
Email
emmaremovenuel.richard@u-bordeaux.fr
Tél
+33 5 57 82 01 56 / +33 5 57 82 19 81
Activités

This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).

Clinical activities: at the University Hospital of Bordeaux, patients with porphyria (cutaneous, acute hepatic and erythropoietic porphyria) are managed by clinicians from different specialties (dermatology, genetic, internal medicine, gastroenterology) in close relationship with the laboratory specialists of the center. The center participates in national and international clinical trials and studies for porphyrias. 

Laboratory tests: Biological assessment of the heme biosynthesis pathway is carried out by the metabolic biochemistry laboratory at the Bordeaux University Hospital (National reference medical biology laboratory for heme biosynthesis anomalies). The laboratory provides expertise to analyze the heme biosynthetic pathway intermediates (ALA, PBG, porphyrins) in urine, blood and feces. The laboratory provides also molecular analysis of all genes involved in porphyria and genetic counseling for patients with porphyria and their family.

Research center: the clinical and laboratory specialists of the center have been invested for a long-time in the development of new therapeutic approaches in erythropoietic porphyria in our research unit (https://www.bricbordeaux.com/). We are involved in the development of gene and pharmacological therapy for erythropoietic porphyria. Our laboratory has previously developed a mouse model of Günther’s disease. Our group is also developing research projects at the interface between cancer and the heme biosynthesis pathway.

Clinical center: National competence center for rare diseases "porphyrias and rare anemias”.
Department of internal medicine and clinical immunology
Hospital Saint-André, CHU de Bordeaux
1 rue Jean Burguet, 33075 Bordeaux cedex, France.

Contact pour les questions cliniques
Pr. Patrick MERCIE, MD-PhD, head of the department of internal medicine and clinical immunology.
Email
patrick.mercremoveie@chu-bordeaux.fr
Tél
05.57.57.10.10 - Poste: 76667
Contact laboratoire
Pr. Emmanuel RICHARD, MD-PhD, head of the department of clinical biochemistry
Email
emmaremovenuel.richard@u-bordeaux.fr / emmaremovenuel.richard@chu-bordeaux.fr
Tél
+33 5 57 82 01 56 / +33 5 57 82 19 81