Why Study Rare Diseases?
At first, it did not seem beneficial to study rare diseases which only affected a handful of the population. However, by studying these diseases, scientists were able to identify GPC-3 as being an important regulator in cell-division. Therefore, the study of these genes allow scientists to learn more about cancer, which affects a major portion of the population. Cancer results from the inability of genes, such as GPC-3, to stop the division of cells. As a result of studying SGBS, GPC-3 can be further studied to identify its more specific role in the regulation of human growth and in tumor predisposition. GPC-3 also plays a role in apoptosis, or programmed cell death. Since SGBS patients are deficient in the GPC-3 gene, these patients will usually develop cancer since not enough genes can trigger apoptosis to eradicate the cancerous cells.
