Pediatric Blood and Genetic Diseases Specialist Prof. Dr. Duran Canatan made statements on the occasion of February 28, World Rare Disease Day. Prof. Dr. Canatan said that rare diseases, a highly complex group of diseases that affect more than one system, usually result from mutations in chromosomes or genes. Stating that there are over 7 thousand rare diseases in the world, Prof. Dr. Canatan stated that 1 person out of every 15 people in the world is affected by rare diseases.


Prof. Dr. Canatan, “affected by the close to 400 million people in the world rare diseases, 30 million in Europe, in the United States are affected 25 million people. Rare diseases, while places 6-8 percent in Turkey, the excess of consanguineous marriage is the main reason for the higher that ratio. Cultures We have been in a position that unites all continents for years. Therefore, many diseases occur in this region. Plus, consanguineous marriages are 25 percent in our country, in other words, rare diseases are very high in our country because one out of every 4 people is consanguineous. Approximately 5 million people are affected by this situation. In this respect, consanguineous marriages need to be reduced. For this, we recommend that young people be screened for pre-marital and pre-pregnancy diseases. The second important issue is that families should be healthy. For this, parents must be screened in terms of rare diseases.


Noting that 95 percent of rare diseases have not yet been treated, Prof. Dr. Canatan said, “75 percent of children are affected. 30 percent of people with rare diseases die before the age of 5,” he said. Stating that families with sick children should be made clear definitions by making exon and genome analyzes, Prof. Dr. Duran Canatan said, “Currently, nearly 332 gene analyzes are performed before pregnancy. In this way, the birth of a sick child can be prevented. In a family with a rare disease, we recommend the IVF method by extracting the gene to have a healthy child, after the diagnosis of all exome and genome tests of both the child and the parents are made clear, “he said.


Stating that the umbilical cord of the newborn child is stored and that stem cells are used in any future disease, Prof. Dr. Canatan said, “With the umbilical cord, the cord ties are stored, and the stem cells are used in case the child himself and his family members develop any disease in the future. By treating the sick brother in the umbilical cord blood of the child born with this method, the family both saves the sick child and has a healthy child. Today, many centers in our country do this, but families need to be guaranteed to keep it for a long time, “he said.

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