Opitz C Syndrome is a rare genetic disease, with less than 60 cases diagnosed worldwide. Of these, two have been diagnosed in Spain (one in Asturias and one in Catalunya).
It is a very severe disease with a high degree of infant mortality; it is characterized by mental and psychomotor retardation and various malformations.
Although this syndrome was described in 1969 by Dr. John M. Opitz, the gene or genes that cause it is still unknown. Being such a rare disease, it is very difficult to get the necessary funding for research.
Our Association was established in 2006 with the main goal of providing visibility to the disease and to ensure the scientific research on this ondition.
Thanks to the collaboration of the team of Human Genetics at the University of Barcelona, led by Dr. Daniel Grinberg, there is now a research project underway, based on the latest exome sequencing techniques.
This project was selected by the new crowdfunding scientist platform Precipita , promoted by the government of Spain , with the aim of raising funds for research.
Thanks to the collaboration of many people and organizations, the amount needed for the project has been raised.
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