Rare Disease Foundation & Alnylam Pharmaceuticals Award
During our Annual Scientific Meeting, we awarded the Alnylam Rare Disease Research Prize to Dr Christine Labreze, Bordeaux University Hospital, for her project entitled: "RNA interference approach targeting the GNAQ gene mutation in vascular anomalies".
General Public Summary of Project Supported:
"Our research team has a long history of developing innovative therapies for rare skin diseases and vascular anomalies. Our work has led to the filing of 2 patents on the treatment of infantile hemangiomas and the prevention of tumors in "moon children" (Xeroderma Pigmentosum). Since the discovery of the efficacy of propranolol in Bordeaux by Dr. Christine Léauté-Labrèze, the treatment has been validated in many countries around the world and allows for the successful treatment of severe infantile hemangiomas. Today, with the reference center for rare skin diseases, we wish to invest in an unresolved problem which is the treatment of vascular anomalies of genetic origin such as planar angioma and propose an innovative therapeutic axis which targets the mutations present in the diseased area which is visually delimited by the angioma. In order for this treatment to target the diseased cells without affecting other skin cells, we will develop an RNA interference approach. This approach is the one that holds the best therapeutic hopes for these sometimes disfiguring diseases with a significant impact on patients for whom satisfactory solutions do not exist.