Do you know Opitz C syndrome? No, surely you do not know it because it is a rare, very rare disease, with only 50 and some cases in the world and two of them in Spain. One is Marta, the girl we see in the video.
It is a rare genetic disorder characterized by severe malformations, mental and psychomotor retardation and with a high mortality rate that has no treatment. That's why help is requested through a crowdfunding project that identifies the gene responsible for this rare disease.
It is unknown what is the gene that causes the disease, therefore there is no possibility of treatment, prenatal diagnosis or genetic counseling. The first step in understanding the basis of the disease and looking for possible therapies is to identify the gene responsible by analyzing the exome.
A team of experts in molecular genetics are willing to carry out the research and the necessary infrastructure is also available. They just need to reach the minimum of 12 thousand euros necessary to carry it out.
Logically, patients with Opitz C syndrome will benefit, of course, but it will also be an important step for other patients with different rare diseases for whom the responsible gene is not yet known. The data and experiences obtained from the exome studies for a specific disease are applicable to other pathologies.
If you want to contribute your little sand granite, you can do it through different contributions in the link that you will find below.
