Wilson Disease, Cystic Fibrosis (CF), Duchenne Muscular Dystrophy (DMD), Amyotrophic Lateral Sclerosis (ALS), Erdheim Chester Disease, Hunter Syndrome, Aicardi Disease, Lorenzo Disease and more… There are more than 6000 defined rare diseases that affect 350 million people worldwide, 30,000 in Europe and 7 million people in our country. 80% of these diseases are caused by genetic causes and consanguineous marriage increases the risk of rare diseases. 50 percent of those affected by these diseases are children.
In Rare Disease Day, individuals who have rare diseases come together and try to make their voices heard as a whole to the world in order to draw attention to rare diseases and to raise awareness. In Turkey, Hacettepe University Center for Genomics and Rare Diseases and the center located in Ege University are two important science centers and researchers working on these diseases. In the field of rare diseases, these units carry out research and development activities in the fields of scientific knowledge production, education and technological innovation in international standards and play a leading role in the fight against disease.
To inform more about the presence of rare diseases and in order to bring people together who are struggling with rare diseases, Rare Disease Awareness Platform was established in Turkey. Let us be aware of the problems of people suffering from these diseases on this day.
Happy Rare Disease Day!
Sena Teber, PT, MSc
