There is an extremely rare disease worldwide due to a genetic defect, which has so far been diagnosed in only 800 people. The disease, called Fibrodysplasia Ossificans Progressiva, or FOP, is characterized by the transformation of muscle and connective tissue into bone due to the smallest of injuries. During the wound healing process, therefore, bones are formed instead of scars as usual. This is why operations are actually contraindicated for FOP patients. People with this diagnosis are sometimes already in a wheelchair at a young age because all joints in the body gradually stiffen and operations also lead to massive bone growth spurts. However, a research team led by Prof. Martina Rauner and Dr. Ulrike Baschant from the Medical Faculty of the TU Dresden has now discovered a protein that is produced in the liver because it can inhibit this excessive bone formation. The research team received 50,000 euros for its discovery in the Eva Luise Köhler Research Prize for Rare Diseases 2020, which will, in turn, benefit research purposes. The protein discovered in the liver, transferrin receptor-2 (Tfr2), which is actually responsible for iron transport, has a regulating effect on bone metabolism. It counteracts so-called undesired ossification (excessive bone growth) and has the potential to be further developed clinically in order to be able to provide therapeutic help to FOP patients in future. Those affected by this rare disease can, therefore, gain new hope. The prize will be awarded on 27 February 2020.
